Affinage

SGCA

Alpha-sarcoglycan · UniProt Q16586

Length
387 aa
Mass
42.9 kDa
Annotated
2026-06-10
90 papers in source corpus 17 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SGCA (alpha-sarcoglycan/adhalin) is a striated muscle-restricted, type I transmembrane glycoprotein of the dystrophin-glycoprotein complex (DGC) that links the muscle cytoskeleton to the extracellular matrix at the sarcolemma (PMID:8226900). Immunogold electron microscopy places the bulk of the protein on the outer face of the sarcolemma in close association with dystrophin and beta-dystroglycan, consistent with its assembly into the membrane-spanning complex (PMID:8866780, PMID:8960314). Its extracellular domain carries a consensus nucleotide-binding site and exhibits Mg2+-dependent, Ca2+-independent ecto-ATPase activity, positioning it to modulate sarcolemmal P2X purinergic receptor signaling by buffering extracellular ATP (PMID:10075685). Proper membrane targeting occurs only during late myotube maturation, coincident with redistribution of caveolin-3 and dystrophin (PMID:9196068), and alpha-sarcoglycan does not function in isolation: loss of any one sarcoglycan destabilizes the entire subcomplex, producing secondary deficiency of the others (PMID:9224527). Missense mutations in SGCA, predominantly in the extracellular domain, cause autosomal recessive limb-girdle muscular dystrophy (LGMD2D/SCARMD), with severity correlating with residual protein (PMID:8069911, PMID:9192266). Pathogenic missense alleles are recognized as misfolded by ER quality control and degraded via the proteasome through the E3 ubiquitin ligases HRD1 and RFP2; inhibiting this pathway or applying proteostasis-modulating CFTR correctors rescues mutant protein expression and sarcolemmal assembly in patient myotubes (PMID:24565866, PMID:32155735). Restoration of SGCA by AAV gene transfer, base editing of splicing-disrupting variants, or correction of cryptic splice mutations rescues complex localization and muscle function (PMID:17653106, PMID:33848270), and splicing-disrupting variants additionally produce a phenotype spanning skeletal and cardiac muscle disease (PMID:41345255).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1993 High

    Established that adhalin/SGCA is an intrinsic component of the dystrophin-glycoprotein complex, defining its place in the cytoskeleton-to-matrix linkage and showing its loss in dystrophy is post-transcriptional.

    Evidence cDNA cloning, primary structure deduction, and antibody immunoblot/immunofluorescence with mRNA profiling in normal and DMD/mdx muscle

    PMID:8226900

    Open questions at the time
    • No direct demonstration of the binding partners that recruit SGCA into the complex
    • Function of the cytoplasmic and transmembrane domains not addressed
  2. 1994 High

    Identified SGCA as a disease gene, showing missense mutations cause autosomal recessive muscular dystrophy and mapping the locus distinct from the 13q SCARMD locus.

    Evidence cDNA cloning, microsatellite linkage, and genomic sequencing of affected families

    PMID:8069911

    Open questions at the time
    • Did not establish how missense mutations mechanistically destabilize the protein or complex
    • Genotype-phenotype relationships not yet resolved
  3. 1996 Medium

    Defined the ultrastructural position of SGCA on the outer sarcolemmal face in tight association with dystrophin and beta-dystroglycan, anchoring biochemical complex models in physical co-localization.

    Evidence Single, double, and triple immunogold labeling electron microscopy on normal and DMD human muscle

    PMID:8866780 PMID:8960314

    Open questions at the time
    • Does not resolve the stoichiometry or direct contact interfaces within the complex
    • Topology of the ecto-ATPase site relative to the basal lamina not mapped
  4. 1997 Medium

    Showed that the sarcoglycan subcomplex behaves as an interdependent unit, with primary loss of one member causing secondary depletion of the others, and that mutation severity tracks residual protein with the extracellular domain as a mutational hotspot.

    Evidence Immunohistochemistry across 20 alpha-SG-deficient biopsies and mutation screening with genotype-phenotype correlation in 31 patients

    PMID:9192266 PMID:9224527

    Open questions at the time
    • Molecular basis of complex co-destabilization not yet defined
    • Did not identify the degradation machinery responsible for the loss
  5. 1997 Medium

    Linked SGCA membrane targeting to muscle maturation, showing correct sarcolemmal localization arises only late in myotube differentiation alongside caveolin-3 and dystrophin redistribution.

    Evidence cDNA cloning, peptide antibody, and immunofluorescence/mRNA analysis during myogenic differentiation in vitro and in vivo (mouse)

    PMID:9196068

    Open questions at the time
    • Trafficking signals and chaperones driving late targeting not identified
    • Relationship between maturation timing and disease onset unexplored
  6. 1999 High

    Assigned a biochemical activity to SGCA, demonstrating Mg2+-dependent ecto-ATPase function via an extracellular nucleotide-binding site and proposing modulation of P2X purinergic signaling by ATP buffering.

    Evidence ATP binding and ATPase assays with inhibitory antibody, sequence-based active site mapping, and P2X receptor identification in sarcolemmal membranes

    PMID:10075685

    Open questions at the time
    • Physiological consequence of ATP buffering on P2X signaling not demonstrated in vivo
    • Whether ecto-ATPase activity is lost in disease mutants untested
  7. 2007 High

    Provided causal in vivo proof that restoring SGCA rescues the dystrophic phenotype, validating it as a therapeutic target.

    Evidence AAV1-mediated human SGCA gene transfer in sgca-/- mice with Evans blue dye, T2 MRI, and isolated muscle force mechanics

    PMID:17653106

    Open questions at the time
    • Durability and immune response of gene transfer not addressed here
    • Does not dissect which SGCA molecular activity drives functional rescue
  8. 2014 High

    Defined the pathogenetic mechanism of missense sarcoglycanopathy as ER quality control-mediated proteasomal degradation, identifying HRD1 and RFP2 as the responsible E3 ligases and showing pharmacological rescue in patient cells.

    Evidence Cell-based degradation assays, E3 ligase identification, and HRD1 inhibition in heterologous cells and LGMD2D patient myotubes

    PMID:24565866

    Open questions at the time
    • Generalizability across the full spectrum of missense mutations not established
    • Long-term safety of HRD1 inhibition not assessed
  9. 2020 Medium

    Extended the proteostasis rescue concept by showing CFTR correctors restore mutant alpha-sarcoglycan trafficking and complex assembly, indicating misfolded protein retains assembly competence if escorted to the membrane.

    Evidence Biotinylation and Western blot analysis of CFTR-corrector-treated patient-derived myotubes

    PMID:32155735

    Open questions at the time
    • In vivo efficacy and functional muscle recovery not demonstrated
    • Mechanism by which CFTR correctors act on SGCA not directly defined
  10. 2021 High

    Identified a synonymous exonic splicing mutation as a distinct pathogenic mechanism and demonstrated base-editing correction restoring splicing, protein, and regenerative capacity.

    Evidence RNA splicing analysis, adenine base editing in primary human muscle stem cells, and in vivo mouse xenograft engraftment

    PMID:33848270

    Open questions at the time
    • Off-target editing and durability in vivo not fully resolved
    • Frequency of splicing-class mutations among patients not quantified
  11. 2025 Medium

    Broadened the SGCA phenotypic spectrum, showing a splicing-disrupting synonymous variant produces prominent cardiac involvement alongside skeletal disease.

    Evidence Exome sequencing, mRNA splicing analysis, and cardiac assessment in five consanguineous families

    PMID:41345255

    Open questions at the time
    • Mechanism by which SGCA loss drives cardiomyopathy not dissected
    • Aberrant protein product not directly characterized

Open questions

Synthesis pass · forward-looking unresolved questions
  • How SGCA ecto-ATPase activity and P2X modulation contribute to sarcolemmal physiology and disease, and the structural basis of complex assembly, remain unresolved.
  • No structure of the assembled sarcoglycan subcomplex
  • Physiological role of ecto-ATPase activity in vivo untested
  • Direct contact partners of SGCA within the complex not mapped

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0016787 hydrolase activity 1 GO:0140657 ATP-dependent activity 1
Localization
GO:0005886 plasma membrane 3
Pathway
R-HSA-1643685 Disease 3 R-HSA-397014 Muscle contraction 2
Partners
DAG1DMD
Complex memberships
dystrophin-glycoprotein complex (DGC)sarcoglycan subcomplex

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1993 SGCA (adhalin/50-DAG) is a component of the dystrophin-glycoprotein complex (DGC), which links the muscle cytoskeleton to the extracellular matrix. It has a predicted 17-amino acid signal sequence, one transmembrane domain, and two potential N-linked glycosylation sites. Expression is restricted to skeletal, cardiac, and selected smooth muscles. Down-regulation in DMD/mdx muscle is a post-translational event, as mRNA is present. cDNA cloning, deduced amino acid sequence analysis, affinity-purified antibody immunoblot/immunofluorescence, mRNA expression analysis The Journal of biological chemistry High 8226900
1994 Missense mutations within the adhalin gene cause autosomal recessive muscular dystrophy (SCARMD/LGMD2D). The adhalin gene maps to chromosome 17q12-q21.33, distinct from the 13q-linked SCARMD locus. cDNA cloning, microsatellite linkage analysis, genomic sequencing to identify missense mutations Cell High 8069911
1994 Human adhalin is alternatively spliced, producing a 35-kDa non-transmembrane isoform in addition to the full-length transmembrane form. Both isoforms are exclusively expressed in striated muscle. cDNA characterization, alternative splice form identification, chromosomal mapping to 17q21 Proceedings of the National Academy of Sciences of the United States of America Medium 7937874
1996 Adhalin localizes to the plasma membrane with the majority of protein on the outer face of the sarcolemma, as determined by immunogold electron microscopy. Alpha-dystroglycan projects from the outer face and forms strands reaching the basal lamina. In DMD, adhalin labeling is severely reduced but the vestige remains in normal position, while merosin is expressed normally, indicating that merosin incorporation is independent of dystrophin and its associated proteins. Single and double immunogold labeling electron microscopy on normal and DMD human skeletal muscle Neuropathology and applied neurobiology Medium 8866780
1996 Triple immunogold labeling electron microscopy on normal human skeletal myofibers demonstrated that dystrophin, beta-dystroglycan, and adhalin are closely associated with each other at the muscle plasma membrane, consistent with biochemical evidence for their complex assembly. Triple immunogold labeling electron microscopy Acta neuropathologica Medium 8960314
1999 Alpha-sarcoglycan (adhalin) has ecto-ATPase activity: it binds ATP in a Mg2+-dependent, Ca2+-independent manner, and the binding is inhibited by BzATP and ADP. A consensus nucleotide-binding site exists in the extracellular domain. An antibody against this sequence inhibits ATP binding. A dystrophin-DAP preparation shows Mg-ATPase activity inhibited by this antibody but not by endo-ATPase inhibitors. A P2X-type purinergic receptor is present in the sarcolemmal membrane, suggesting that alpha-sarcoglycan modulates P2X receptor activity by buffering extracellular ATP concentration. ATP binding assay (Mg2+-dependent), ATPase activity assay with inhibitory antibody, purinergic receptor identification, sequence analysis of nucleotide-binding site The Journal of biological chemistry High 10075685
1997 Most SGCA missense mutations (including the common R77C) are located in the extracellular domain of the protein. Mutation severity correlates at least in part with the amount of residual protein. The R77C substitution accounts for 32% of mutated chromosomes and the R284C substitution is associated with a benign disease course. Mutation screening of 31 unrelated patients by sequencing; genotype-phenotype correlation analysis Journal of medical genetics Medium 9192266
1997 Primary defect in any one of the four sarcoglycan proteins (alpha, beta, gamma, delta) leads to reduced expression of the whole sarcoglycan complex (secondary deficiency of the other sarcoglycans), as shown by immunohistochemical analysis of alpha-SG-deficient patients who also show concomitant deficiency of beta- and gamma-sarcoglycans. Immunohistochemistry on 20 alpha-SG-deficient patient muscle biopsies Acta neuropathologica Medium 9224527
1997 Mouse adhalin is expressed specifically in striated muscle cells and their immediate precursors. Proper localization to the muscle cell membrane occurs only during late stages of myotube maturation, coincident with redistribution of caveolin-3 and dystrophin, indicating that adhalin membrane targeting is linked to formation of a fully functional muscle fiber. cDNA cloning, peptide-specific antibody generation, immunofluorescence and mRNA expression analysis during myogenic differentiation in vitro and in vivo Biochemical and biophysical research communications Medium 9196068
1998 Epsilon-sarcoglycan is a newly identified sarcoglycan with high homology to alpha-sarcoglycan and an identical intron-exon structure, but more broadly expressed, indicating functional redundancy within the DGC sarcoglycan subcomplex. Gene cloning and sequence analysis, intron-exon structure comparison, expression profiling FEBS letters Low 9475163
2000 A mutation in alpha-SG close to the transmembrane domain resulted in partial deficiency of alpha-SG alone without reducing the other three sarcoglycans, suggesting that mutations near the transmembrane domain are less critical for sarcoglycan complex integrity than mutations elsewhere. Immunohistochemistry and Western blot analysis in a LGMD2D family with genotype-phenotype analysis Muscle & nerve Low 10842281
2014 The V247M alpha-sarcoglycan mutant (LGMD2D) is degraded via the ER quality control-proteasome pathway, specifically through the E3 ubiquitin ligases HRD1 and RFP2. Pharmacological inhibition of HRD1 rescues V247M alpha-sarcoglycan expression both in heterologous cell models and in patient-derived myotubes (carrying L31P/V247M mutations), demonstrating that inappropriate proteasomal degradation is the pathogenetic mechanism of missense sarcoglycanopathy. Cell-based degradation assay, E3 ligase identification (HRD1, RFP2), pharmacological HRD1 inhibition in heterologous cells and LGMD2D patient myotubes, protein rescue quantification Human molecular genetics High 24565866
2020 Combined administration of CFTR correctors (including compound C17) to LGMD2D patient-derived myotubes rescues defective alpha-sarcoglycan complex expression and promotes sarcolemma localization of the mutant protein. The data suggest that a misfolded alpha-sarcoglycan can still assemble into the sarcoglycan complex if assisted in cell trafficking, and that CFTR correctors act as proteostasis modulators. Biotinylation assays, Western blot analysis, treatment of patient-derived differentiated myogenic cells with CFTR correctors International journal of molecular sciences Medium 32155735
2007 AAV1-mediated gene transfer of human alpha-sarcoglycan (sgca) into tibialis anterior of sgca(-/-) mice restored sarcoglycan complex localization to the sarcolemma, reduced muscle fiber damage (decreased Evans blue dye accumulation), prevented disease progression measured by T2-weighted MRI, and improved in vitro force mechanics of isolated EDL muscles. AAV gene transfer in sgca KO mice, Evans blue dye exclusion assay, MRI, in vitro force mechanics on isolated muscle Molecular therapy : the journal of the American Society of Gene Therapy High 17653106
2021 A synonymous SGCA variant (c.157G>A) at the last coding nucleotide of exon 2 causes exonic splicing mutation that induces skipping of two co-regulated exons. Adenine base editing corrected the mutation in patient muscle stem cells with >90% efficiency, rescuing the splicing defect and alpha-sarcoglycan expression. Base-edited patient cells regenerated muscle and contributed to the Pax7+ satellite cell compartment in mouse xenografts. RNA splicing analysis, adenine base editing in primary human muscle stem cells, alpha-sarcoglycan protein expression rescue, in vivo mouse xenograft engraftment JCI insight High 33848270
2025 A synonymous SGCA variant located distant from canonical splice sites disrupts normal mRNA splicing, producing aberrant transcripts and presumably a nonfunctional/structurally altered alpha-sarcoglycan protein. This manifests as prominent cardiac involvement (left ventricular dysfunction, arrhythmias, dilated cardiomyopathy) in addition to skeletal muscle disease, broadening the recognized phenotypic spectrum of SGCA mutations. Exome sequencing, mRNA splicing analysis, cardiac assessment (echocardiography, Holter monitoring, cardiac MRI) in five consanguineous families European journal of human genetics : EJHG Medium 41345255
1996 Adhalin (alpha-sarcoglycan) is not required for anchoring NOS I (neuronal nitric oxide synthase) to the sarcolemma in non-mammalian species: chicken and turtle skeletal muscle lacks adhalin immunoreactivity but retains NOS I sarcolemmal localization, indicating that the sarcoglycan subcomplex is not essential for NOS I positioning in these species. Comparative immunohistochemistry of NOS I, dystrophin, DAG, and adhalin across rat, chicken, and turtle skeletal muscle Acta histochemica Low 8863863

Source papers

Stage 0 corpus · 90 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1994 Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 426 8069911
1993 Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). The Journal of biological chemistry 148 8226900
1999 Loperamide (ADL 2-1294), an opioid antihyperalgesic agent with peripheral selectivity. The Journal of pharmacology and experimental therapeutics 119 10087042
1995 ADL structure for stroke patients in Japan based on the functional independence measure. American journal of physical medicine & rehabilitation 116 8534387
1998 Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. FEBS letters 115 9475163
1997 Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). Journal of medical genetics 101 9192266
1994 Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. Proceedings of the National Academy of Sciences of the United States of America 90 7937874
2022 Utilization of MG-ADL in myasthenia gravis clinical research and care. Muscle & nerve 85 34989427
1999 Ecto-ATPase activity of alpha-sarcoglycan (adhalin). The Journal of biological chemistry 77 10075685
1995 Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). Neurology 59 7501167
1998 Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development. Genomics 55 9521867
2011 Effects of high-intensity exercise and protein supplement on muscle mass in ADL dependent older people with and without malnutrition: a randomized controlled trial. The journal of nutrition, health & aging 51 21808934
2002 The ABC of Alzheimer's disease: ADL and improving day-to-day functioning of patients. International psychogeriatrics 51 12636178
1994 Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie 50 7987694
1995 A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Human molecular genetics 49 8528203
1995 Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Annals of neurology 48 7668821
2008 Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. Neurology 44 18525034
1995 Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. The Journal of clinical investigation 43 7657792
2007 Long-term skeletal muscle protection after gene transfer in a mouse model of LGMD-2D. Molecular therapy : the journal of the American Society of Gene Therapy 41 17653106
2014 Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D. Human molecular genetics 39 24565866
1997 Concomitant deficiency of beta- and gamma-sarcoglycans in 20 alpha-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects. Acta neuropathologica 39 9224527
1993 Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie 39 8044705
2020 ADL-dependency, D-Dimers, LDH and absence of anticoagulation are independently associated with one-month mortality in older inpatients with Covid-19. Aging 34 32576712
2020 Switching to Biosimilar SDZ-ADL in Patients with Moderate-to-Severe Active Rheumatoid Arthritis: 48-Week Efficacy, Safety and Immunogenicity Results From the Phase III, Randomized, Double-Blind ADMYRA Study. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 34 33119861
1994 Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin. The Journal of clinical investigation 31 8040315
2007 The in vitro pharmacology of the peripherally restricted opioid receptor antagonists, alvimopan, ADL 08-0011 and methylnaltrexone. Naunyn-Schmiedeberg's archives of pharmacology 30 17340127
2024 Association between depressive symptoms and sarcopenia among middle-aged and elderly individuals in China: the mediation effect of activities of daily living (ADL) disability. BMC psychiatry 29 38858698
2018 Immobilization on octyl-agarose beads and some catalytic features of commercial preparations of lipase a from Candida antarctica (Novocor ADL): Comparison with immobilized lipase B from Candida antarctica. Biotechnology progress 29 30341806
1996 alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations. Journal of the neurological sciences 28 8866424
2020 Increased intramuscular adipose tissue of the quadriceps is more strongly related to declines in ADL than is loss of muscle mass in older inpatients. Clinical nutrition (Edinburgh, Scotland) 26 32917418
1997 Mouse adhalin: primary structure and expression during late stages of muscle differentiation in vitro. Biochemical and biophysical research communications 25 9196068
2021 Base editing repairs an SGCA mutation in human primary muscle stem cells. JCI insight 23 33848270
1996 Ultrastructural localization of adhalin, alpha-dystroglycan and merosin in normal and dystrophic muscle. Neuropathology and applied neurobiology 23 8866780
1996 Increased expression of dystrophin, beta-dystroglycan and adhalin in denervated rat muscles. Journal of muscle research and cell motility 21 8906620
2018 A major QTL on chromosome C05 significantly reduces acid detergent lignin (ADL) content and increases seed oil and protein content in oilseed rape (Brassica napus L.). TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik 20 30143828
2000 Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family. Muscle & nerve 20 10842281
2024 Epigenetic age acceleration and the risk of frailty, and persistent activities of daily living (ADL) disability. Age and ageing 18 38941117
2021 An integrative analysis to distinguish between emphysema (EML) and alpha-1 antitrypsin deficiency-related emphysema (ADL)-A systems biology approach. Advances in protein chemistry and structural biology 18 34340772
1996 Clinical heterogeneity of adhalin deficiency. Annals of neurology 18 8967751
1995 [Chronological study concerning ADL among Okinawan centenarians]. Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics 18 7563936
2021 Randomised study of PF-06410293, an adalimumab (ADL) biosimilar, compared with reference ADL for the treatment of active rheumatoid arthritis: results from weeks 26-52, including a treatment switch from reference ADL to PF-06410293. RMD open 17 33883254
2018 Evolutionary emergence of the rac3b/rfng/sgca regulatory cluster refined mechanisms for hindbrain boundaries formation. Proceedings of the National Academy of Sciences of the United States of America 17 29610331
2010 Assessing the cost-effectiveness of the rivastigmine transdermal patch for Alzheimer's disease in the UK using MMSE- and ADL-based models. International journal of geriatric psychiatry 17 20845395
2007 Evaluation of ADL in patients with Hunter disease using FIM score. Brain & development 17 17307320
2005 Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients. Muscle & nerve 17 15736300
1999 ADL structure for nondisabled Japanese children based on the Functional Independence Measure for Children (WeeFIM). American journal of physical medicine & rehabilitation 17 10340416
2020 Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery. International journal of molecular sciences 15 32155735
2019 Serum bilirubin level is a strong predictor for disability in activities in daily living (ADL) in Japanese elderly patients with diabetes. Scientific reports 15 31068612
2004 Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 13 15298081
2024 The sGCa Vericiguat Exhibit Cardioprotective and Anti-Sarcopenic Effects through NLRP-3 Pathways: Potential Benefits for Anthracycline-Treated Cancer Patients. Cancers 12 38672567
2016 Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. Muscle & nerve 11 26934379
1996 Adhalin (alpha-sarcoglycan) is not required for anchoring of nitric oxide synthase I (NOS I) to the sarcolemma in non-mammalian skeletal (striated) muscle fibers. Acta histochemica 11 8863863
1995 Abnormal expression of heparin sulfate proteoglycan on basal lamina of muscle fibers in two Japanese patients with adhalin deficiency. Neuromuscular disorders : NMD 11 8580728
2011 Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 10 21856579
1995 Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes. Journal of medical genetics 10 8825917
1996 Characteristic expression of cell adhesion molecules in adhalin deficiency. Journal of the neurological sciences 9 8981302
1996 Electron microscopic observations of triple immunogold labelling for dystrophin, beta-dystroglycan and adhalin in human skeletal myofibers. Acta neuropathologica 8 8960314
1995 Adhalin mRNA and cDNA sequence are normal in the cardiomyopathic hamster. FEBS letters 8 7758576
2016 LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report. Neuro endocrinology letters 5 27857043
2001 [Early onset adhalinopathy (LGMD2D) mimicking congenital muscular dystrophy]. Revista de neurologia 5 11391490
2001 Deficiency of the 50 kDa dystrophin-associated-glycoprotein (adhalin) in an Indian autosomal recessive limb girdle muscular dystrophy patient : immunochemical analysis and clinical aspects. Neurology India 4 11303236
1998 Laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: an immunohistochemical study. Clinical neurology and neurosurgery 4 9637197
2025 The mediating effect of activities of daily living (ADL) disability on the association between depressive symptoms and cognitive impairment in older adults: a National study. BMC geriatrics 3 41013301
2024 RNAi-dependent expression of sperm genes in ADL chemosensory neurons is required for olfactory responses in Caenorhabditis elegans. Frontiers in molecular biosciences 3 39055986
2019 Identification of a novel SGCA missense mutation in a case of limb-girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins. Neuropathology : official journal of the Japanese Society of Neuropathology 3 30989758
2001 Adhalin deficiency: an unusual cause of muscular dystrophy. Indian journal of pediatrics 3 11770249
1996 [Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy]. Rinsho shinkeigaku = Clinical neurology 3 8741343
2024 Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients. Molecular biology reports 2 39060875
2023 Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease. Frontiers in genetics 2 37900180
2022 Decoding temporal muscle synergy patterns based on brain activity for upper extremity in ADL movements. Cognitive neurodynamics 2 38699620
2021 Structure and properties of the giant reed (Arundo donax) lectin (ADL). Glycobiology 2 34192315
2012 RET promoter variations in familial African degenerative leiomyopathy (ADL): first report of a possible genetic-environmental interaction. Pediatric surgery international 2 23053599
2025 Reconsidering a silent variant: SGCA's role in atypical cardiomyopathy. European journal of human genetics : EJHG 1 41345255
2020 Histamine-2 receptor antagonists (H₂RA) may negatively impact ADL assessment in patients on a convalescent rehabilitation ward. Die Pharmazie 1 32213239
2002 Expression of mu-BCR-ADL transcripts in chronic neutrophilic leukemia. American journal of clinical pathology 1 12472276
2000 ADL-2-1294 (Adolor). IDrugs : the investigational drugs journal 1 16047259
1997 [Gene analysis in patients with muscular dystrophy: alpha-sarcoglycan (adhalin) gene mutations in patients with malignant limb-girdle muscular dystrophy]. Rinsho byori. The Japanese journal of clinical pathology 1 9120997
1997 [Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive muscular dystrophy/SCARMD)]. Nihon rinsho. Japanese journal of clinical medicine 1 9436427
1997 [Adhalin(alpha-sarcoglycan) gene mutations in patients with malignant limb-girdle muscular dystrophy (MLGMD) (Miyoshi)]. Nihon rinsho. Japanese journal of clinical medicine 1 9436428
1997 [The frequency of patients with adhalin deficiency in a muscular dystrophy patient population]. Nihon rinsho. Japanese journal of clinical medicine 1 9436429
2025 Low expression of SGCA promotes lung squamous cell carcinoma malignant progression. Scientific reports 0 40594054
2025 Early Myasthenia Gravis Activities of Daily Living (MG-ADL) Response to Ravulizumab in Acetylcholine Receptor-Positive Generalized Myasthenia Gravis Refractory: A Case Report From Latin America. Cureus 0 40718253
2024 Changes in the Glittre-ADL test in patients with non-small cell lung cancer: Pre- and postoperative analysis after home-based rehabilitation: A preliminary study. Heliyon 0 39654716
2024 Associations of malnutrition factors with dysphagia mediated by ADL among nursing home residents. Wiener klinische Wochenschrift 0 39714471
2017 [A case of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures]. No to hattatsu = Brain and development 0 30011151
2015 A Process for the Representation of openEHR ADL Archetypes in OWL Ontologies. Studies in health technology and informatics 0 26262167
2009 Predictors of ADL Disability in Culturally Diverse Older Adults. International journal of exercise science 0 27182317
1998 [Identification of adhalin gene mutation in limb-girdle muscular dystrophy in Chinese]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 9845765
1996 [Factors related to ADL of stroke patients three months after discharge]. [Nihon koshu eisei zasshi] Japanese journal of public health 0 8704268
1995 [Complete deficiency of adhalin (50 kDa DAG) in skeletal muscle of malignant limb-girdle muscular dystrophy]. Rinsho shinkeigaku = Clinical neurology 0 7781237

Missed literature

Know a paper Affinage missed for SGCA? Flag it for the maintainers and the community.

No submissions yet.