Affinage

ATL1

Atlastin-1 · UniProt Q8WXF7

Length
558 aa
Mass
63.5 kDa
Annotated
2026-06-09
67 papers in source corpus 13 papers cited in narrative 13 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ATL1 (atlastin-1) is an oligomeric integral-membrane GTPase that catalyzes homotypic fusion of endoplasmic reticulum tubules to build and maintain the polygonal ER network, with a dedicated role in neuronal process formation (PMID:14506257, PMID:24908668, PMID:25761634). It spans the membrane via two transmembrane domains that orient both the N-terminal GTP-binding domain and C-terminal domain to the cytoplasm, and it self-associates into oligomers (PMID:14506257). Membrane fusion proceeds through nucleotide-dependent dimerization: crystal structures of the G and middle domains captured two conformations sharing a common G-domain dimer, and dimer formation in solution requires GTP or transition-state analogs rather than GDP alone, driving an extended-to-crossover conformational change that draws apposed membranes together (PMID:21220294). Purified ATL1 is sufficient to remodel liposomes into branched tubules and polygonal networks and to catalyze fusion in vitro, activities blocked by GDP and dynasore (PMID:19573020, PMID:25761634). Beyond ER shaping, ATL1 cooperates with VCP and its cofactor p47 so that tubular ER morphology supports efficient protein synthesis and dendritic spine formation, and ER fusion activity sustains lipid (phosphatidylcholine and cholesterol) synthesis tied to the membrane reservoir [PMID:26984393, PMID:bio_10.1101_2025.04.12.648519]. In neurons ATL1 localizes to the cis-Golgi, axonal growth cones, varicosities and branch points, and is required for axon formation and elongation, binding the partners NIPA1 and p24/REEP1 in this context (PMID:14506257, PMID:16537571, PMID:20816793). ATL1 mutations cause SPG3A hereditary spastic paraplegia: disease variants variously impair GTP hydrolysis, dimerization, membrane fusion, or protein stability, although at least one common variant retains full in vitro activity, indicating fusion deficit is a key but not obligatory contributor to disease (PMID:16537571, PMID:25761634, PMID:17427918). Patient iPSC-derived cortical neurons show impaired axon growth, synaptic protein/calcium deficits and axonal degeneration that are rescued by microtubule-binding agents or by LXR-agonist restoration of lipid and synaptic programs (PMID:24908668, PMID:41250225).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 2003 High

    Establishing ATL1's membrane topology, oligomeric state, and subcellular location was the first step toward defining how it acts on membranes.

    Evidence Co-IP, yeast two-hybrid, gel-exclusion chromatography, cross-linking, protease protection and immunogold EM in cortical neurons

    PMID:14506257

    Open questions at the time
    • The functional consequence of oligomerization was not yet defined
    • cis-Golgi localization did not yet connect to a fusion or ER-shaping role
  2. 2006 High

    Linking ATL1 to axon development and showing SPG3A mutations impair GTPase activity tied the gene to a neuronal phenotype and a candidate dominant-negative disease mechanism.

    Evidence shRNA knockdown, confocal and EM localization, GTPase assays, oligomerization analysis in cortical neurons

    PMID:16537571

    Open questions at the time
    • Molecular substrate of the GTPase activity not yet identified
    • dominant-negative model inferred from mixed-oligomer formation, not directly demonstrated in vivo
  3. 2007 Medium

    Two studies tied ATL1 to the early secretory pathway and demonstrated a loss-of-function disease mechanism, distinguishing enzymatic from stability defects.

    Evidence Mutant expression with vesicle transport assays and p24 Co-IP; GTPase assay, spastin Co-IP and patient lymphoblast immunoblot for the del436N variant

    PMID:17321752 PMID:17427918

    Open questions at the time
    • Direct role in vesicle budding vs ER tubule fusion not yet resolved
    • p24 interaction shown by Co-IP only
    • del436N destabilization mechanism not defined
  4. 2009 Medium

    Reconstitution with purified protein showed ATL1 intrinsically remodels membranes, moving the mechanism from cellular correlation to direct biochemistry.

    Evidence In vitro liposome tubulation with purified ATL1, GDP/dynasore inhibition, mutagenesis of GTPase-domain residues

    PMID:19573020

    Open questions at the time
    • Tubulation assay did not directly demonstrate bilayer fusion
    • single lab, no structural model of the active conformation
  5. 2010 Medium

    Identification of NIPA1 as a direct, mutually-dependent partner placed ATL1 in a defined HSP protein complex with shared trafficking and neuronal sprouting functions.

    Evidence Reciprocal Co-IP, confocal co-localization, flow cytometry and loss-of-function in primary rat neurons

    PMID:20816793

    Open questions at the time
    • Functional consequence of complex sequestration on ER fusion not measured
    • single lab Co-IP-based interaction
  6. 2011 High

    Crystal structures and solution scattering defined the nucleotide-dependent dimerization mechanism that powers fusion and showed how disease mutations disrupt it.

    Evidence X-ray crystallography of G/middle domains in two conformations, SAXS, GTP/GDP/transition-state dimerization assays

    PMID:21220294

    Open questions at the time
    • Full-length transmembrane-anchored fusion intermediate not captured
    • membrane fusion not directly demonstrated in this study
  7. 2014 Medium

    Demonstrating ATL1 mediates homotypic ER tubule fusion in human neurons and that axon defects are rescued by microtubule agents connected ER morphology to cytoskeletal dynamics in disease.

    Evidence SPG3A patient iPSC-derived neurons, axon growth and mitochondrial motility assays, microtubule-binding drug rescue

    PMID:24908668

    Open questions at the time
    • Mechanism linking ER-microtubule interaction to axon growth not fully resolved
    • single lab
  8. 2015 High

    A variant panel established that ATL1 is sufficient for fusion but that fusion deficit, while a key contributor, is not obligatory for SPG3A, refining the disease model.

    Evidence Cell ER-network assays, in vitro GTP hydrolysis, dimerization and membrane fusion assays, REEP1 co-redistribution across disease variants

    PMID:25761634

    Open questions at the time
    • Alternative pathogenic mechanism for fusion-competent variants unexplained
    • in vivo relevance of REEP1 co-redistribution not tested
  9. 2016 High

    Placing ATL1 upstream of VCP/p47, ER morphology and protein synthesis in dendritic spinogenesis extended its role beyond axons to synaptic structure, with a pharmacologic rescue.

    Evidence Knockdown, disease-mutation knockin mice, leucine supplementation rescue, dendritic spine and ER morphology quantification

    PMID:26984393

    Open questions at the time
    • Molecular nature of the ATL1-VCP-p47 functional link not structurally defined
    • how ER morphology controls translation efficiency remains mechanistically open
  10. 2022 Low

    A non-neuronal report linked ATL1 to mTOR-dependent control of trophoblast proliferation and invasion, raising a possible signaling role.

    Evidence siRNA knockdown/overexpression in HTR-8/SVneo cells, p-p70S6K/p-mTOR immunoblot, rapamycin rescue

    PMID:36193555

    Open questions at the time
    • Single cell line, single lab, no direct molecular link between ATL1 and mTOR pathway components
    • mechanism limited to pathway-marker correlation
  11. 2025 Medium

    Two studies connected ATL ER-fusion activity to lipid synthesis and synaptic vesicle/synaptic gene maintenance, and showed LXR-agonist rescue of patient neurons, framing lipid metabolism as a downstream disease axis.

    Evidence ATL2-KO mice with lipid measurements, synaptic vesicle EM and calyx electrophysiology (preprint); SPG3A patient iPSC cortical neurons with RNA-seq, calcium imaging and LXR623 rescue

    PMID:41250225 PMID:bio_10.1101_2025.04.12.648519

    Open questions at the time
    • Direct biochemical coupling of ER membrane area to lipid synthesis rates not established
    • one study is a preprint and uses ATL2 knockout
    • whether lipid restoration corrects the primary fusion defect is untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • How fusion-competent SPG3A variants cause length-dependent axonopathy, and the precise molecular coupling of ER tubule fusion to lipid synthesis, protein synthesis and synaptic maintenance, remain unresolved.
  • No unifying mechanism for fusion-independent pathogenicity
  • no structure of the full-length membrane-anchored fusion intermediate
  • in vivo causal chain from ER morphology to axon degeneration incomplete

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003924 GTPase activity 4 GO:0140657 ATP-dependent activity 2
Localization
GO:0005783 endoplasmic reticulum 3 GO:0005794 Golgi apparatus 2 GO:0031410 cytoplasmic vesicle 1
Pathway
R-HSA-1266738 Developmental Biology 2 R-HSA-1852241 Organelle biogenesis and maintenance 2
Partners
NIPA1REEP1SPASTTMED2VCP

Evidence

Reading pass · 13 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2003 ATL1 (atlastin-1) is an integral membrane protein with two transmembrane domains, both N-terminal GTP-binding and C-terminal domains exposed to the cytoplasm. It self-associates to form oligomers (likely tetramers) in vivo, as demonstrated by yeast two-hybrid, co-immunoprecipitation, gel-exclusion chromatography, and chemical cross-linking. It localizes predominantly to the cis-Golgi in cultured cortical neurons, as shown by co-localization with Golgi markers and immunogold electron microscopy. Co-immunoprecipitation, yeast two-hybrid, gel-exclusion chromatography, chemical cross-linking, membrane fractionation, protease protection assay, immunogold electron microscopy The Journal of biological chemistry High 14506257
2006 ATL1 is highly enriched in vesicular structures within axonal growth cones, varicosities, and axonal branch points in cultured cortical neurons. Knockdown of ATL1 by shRNA reduces the number of neuronal processes and impairs axon formation and elongation during development. Several SPG3A missense mutations have impaired GTPase activity, and may act in a dominant-negative manner by forming mixed oligomers with wild-type atlastin-1. shRNA knockdown, confocal microscopy, electron microscopy, GTPase activity assay, dominant-negative oligomerization analysis Human molecular genetics High 16537571
2007 ATL1 mutations in the GTPase domain interfere with Golgi maturation by preventing ER-derived vesicle budding, while mutations in other regions disrupt fission of ER-derived vesicles or their migration to Golgi targets. ATL1 co-immunoprecipitates p24 (a member of the p24/emp/gp25L family that regulates vesicle budding), suggesting a functional relationship in the early secretory pathway. Cell culture expression of wild-type and mutant ATL1, co-immunoprecipitation, vesicle transport assays Molecular and cellular neurosciences Medium 17321752
2009 Purified ATL1 transforms phosphatidylserine liposomes into branched tubules and polygonal networks of tubules and vesicles in vitro, an activity inhibited by GDP and the dynamin inhibitor dynasore. GTPase domain mutations T162P and R217C decrease but do not completely prevent this membrane remodeling activity. ATL1 is incorporated into ER microsome-derived vesicles, implicating it in vesicle formation. In vitro liposome tubulation assay with purified ATL1, pharmacological inhibition (GDP, dynasore), microsome vesicle incorporation assay Journal of neurochemistry Medium 19573020
2011 Crystal structures of ATL1 comprising the G and middle domains were solved in two different conformations, both revealing dimeric assemblies with a common GDP-bound G domain dimer. Dimer formation in solution occurs only in the presence of GTP and transition state analogs (not GDP alone), consistent with nucleotide-dependent dimerization. Solution scattering data indicate the protein adopts an extended dimeric conformation upon nucleotide binding. Several HSP-associated mutations affect this nucleotide-dependent dimerization mechanism. X-ray crystallography, small-angle X-ray scattering (SAXS), solution dimerization assays with GTP/GDP/transition state analogs Proceedings of the National Academy of Sciences of the United States of America High 21220294
2010 ATL1 and NIPA1 are direct binding partners, demonstrated by co-immunoprecipitation and confocal co-localization. Their endogenous expression and trafficking are mutually dependent on coexpression. HSP-causing mutations in atlastin-1 (R239C, R495W) cause sequestration of atlastin-1:NIPA1 complexes in the Golgi complex, while NIPA1 mutations (T45R, G106R) cause sequestration in the ER. Both atlastin-1 and NIPA1 mutations reduce axonal and dendritic sprouting in cultured rat cortical neurons. Co-immunoprecipitation, confocal microscopy, flow cytometry, loss-of-function in primary neurons Molecular and cellular neurosciences Medium 20816793
2014 ATL1 mediates homotypic fusion of ER tubules to form the polygonal ER network. A disease-associated mutation (P342S) in the hinge region between the GTPase and assembly domains impairs this function. SPG3A patient iPSC-derived neurons show impaired axon growth, and this defect can be rescued by microtubule-binding agents, establishing that tubular ER interactions with the microtubule cytoskeleton are important for axon growth in SPG3A. iPSC-derived human neurons, axon growth assays, microtubule-binding drug rescue, mitochondrial motility assays Human molecular genetics Medium 24908668
2015 ATL1 is sufficient to catalyze membrane fusion and required for ER network formation. Biochemical analysis of SPG3A disease variants showed that some variants have clear deficits in GTP hydrolysis, dimer formation, and membrane fusion, but at least two disease variants (including the most frequently identified in SPG3A HSP patients) displayed wild-type levels of activity in all assays, including co-redistribution of ER-localized REEP1. This indicates that a deficit in membrane fusion activity of ATL1 is a key contributor but is not required for HSP causation. Cell-based ER network formation assays, in vitro GTP hydrolysis assay, biochemical dimer formation assay, in vitro membrane fusion assay, REEP1 co-redistribution assay Molecular biology of the cell High 25761634
2016 ATL1 cooperates with VCP (valosin-containing protein) and its cofactor p47 to regulate tubular ER formation, which in turn influences the efficiency of protein synthesis and controls dendritic spine formation in neurons. Knockdown or disease-mutation knockin of ATL1 reduces dendritic spine density. Augmenting protein synthesis (via leucine supplementation) ameliorates dendritic spine defects caused by ATL1 deficiency, placing ATL1 upstream of ER morphology and protein synthesis in dendritic spinogenesis. Knockdown, disease mutation knockin mice, leucine supplementation rescue, dendritic spine density quantification, ER morphology analysis Nature communications High 26984393
2007 An in-frame deletion (p.del436N) in ATL1 does not affect GTPase activity or interactions between atlastin and spastin, but causes a significant reduction in ATL1 protein levels in patient lymphoblasts, supporting a loss-of-function mechanism for this HSP mutation. GTPase activity assay, co-immunoprecipitation (atlastin-spastin interaction), immunoblot of patient lymphoblasts Annals of neurology Medium 17427918
2025 ATL-mediated ER fusion activity is essential for sustained lipid synthesis (phosphatidylcholine and cholesterol). In ATL-deleted mice, reduced ER membrane area correlates with decreased phosphatidylcholine and cholesterol synthesis. At calyx-type synapses in ATL-deleted mice, a reduced membrane reservoir (fewer presynaptic vesicles) leads to defective synaptic function and deafness, linking ATL1/ATL2 ER-shaping activity to synaptic vesicle pool maintenance. ATL2-knockout mice, lipid synthesis measurements, electron microscopy of synaptic vesicles, electrophysiology at calyx synapses bioRxivpreprint Medium bio_10.1101_2025.04.12.648519
2022 ATL1 inhibits proliferation, migration, and invasion of trophoblast (HTR-8/SVneo) cells through inhibition of the mTOR signaling pathway. Downregulation of ATL1 increased p-p70S6K and p-mTOR levels, while upregulation decreased them. Rapamycin (mTOR inhibitor) reversed the promotive effect of ATL1 knockdown on proliferation and invasion. siRNA knockdown, overexpression, cell viability/proliferation/migration/invasion assays, western blot for p-p70S6K and p-mTOR, pharmacologic rescue with rapamycin Journal of biochemical and molecular toxicology Low 36193555
2025 SPG3A patient iPSC-derived cortical projection neurons show significant reductions in synaptic genes and proteins (compared to controls), reduced calcium activity, and axonal degeneration. Treatment with LXR623 (an LXR agonist) rescues synaptic protein levels, calcium activity, and axonal degeneration, and restores lipid and synaptic gene expression patterns, implicating lipid metabolism and synaptic dysfunction as downstream consequences of ATL1 loss. Patient iPSC-derived cortical neurons, RNA-sequencing, calcium imaging, western blot for synaptic proteins, LXR623 pharmacologic rescue Acta neuropathologica communications Medium 41250225

Source papers

Stage 0 corpus · 67 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2011 Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A. Proceedings of the National Academy of Sciences of the United States of America 152 21220294
2003 Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. The Journal of biological chemistry 125 14506257
2006 SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. Human molecular genetics 100 16537571
2016 VCP and ATL1 regulate endoplasmic reticulum and protein synthesis for dendritic spine formation. Nature communications 66 26984393
2007 Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. Molecular and cellular neurosciences 56 17321752
2014 Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A. Human molecular genetics 54 24908668
2008 ATL-1, an analogue of aspirin-triggered lipoxin A4, is a potent inhibitor of several steps in angiogenesis induced by vascular endothelial growth factor. British journal of pharmacology 53 18193074
2010 Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. BMC neurology 51 20932283
2006 De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Archives of neurology 50 16533974
2004 Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Human mutation 50 14695538
2014 Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation. European journal of human genetics : EJHG 40 24473461
2004 Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics 39 15517445
2002 SPG3A: An additional family carrying a new atlastin mutation. Neurology 36 12499504
2009 Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum. Journal of neurochemistry 34 19573020
2005 Involvement of the Rho-kinase/myosin light chain kinase pathway on human monocyte chemotaxis induced by ATL-1, an aspirin-triggered lipoxin A4 synthetic analog. Journal of immunology (Baltimore, Md. : 1950) 33 16034127
2012 Atl1 regulates choice between global genome and transcription-coupled repair of O(6)-alkylguanines. Molecular cell 31 22658721
2005 The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. Journal of neurology 28 15742100
2005 Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. Archives of neurology 27 16009769
2017 Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis. Translational neurodegeneration 25 28396731
2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. Journal of the neurological sciences 25 26671083
2015 ER network formation and membrane fusion by atlastin1/SPG3A disease variants. Molecular biology of the cell 24 25761634
2013 Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. Human mutation 24 23483706
2011 Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 24 22203332
2010 The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1. Molecular and cellular neurosciences 24 20816793
2009 Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. Brain & development 24 19735987
2007 Characterization of a novel SPG3A deletion in a French-Canadian family. Annals of neurology 22 17427918
2003 SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. Journal of the neurological sciences 22 14607301
2019 Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia. Scientific reports 20 31594988
2014 Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia. Journal of clinical neurology (Seoul, Korea) 20 25045380
2012 Alkyltransferase-like protein (Atl1) distinguishes alkylated guanines for DNA repair using cation-π interactions. Proceedings of the National Academy of Sciences of the United States of America 20 23112169
2004 Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. Archives of neurology 20 15477516
2014 ATL-1, a synthetic analog of lipoxin, modulates endothelial permeability and interaction with tumor cells through a VEGF-dependent mechanism. Biochemical pharmacology 19 24887589
2009 Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype. Clinical genetics 18 19459885
2008 Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. Acta neurologica Scandinavica 18 18664244
2015 Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. Journal of the neurological sciences 17 26208798
2009 Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. Journal of the neurological sciences 17 19423133
2018 The involvement of endoplasmic reticulum formation and protein synthesis efficiency in VCP- and ATL1-related neurological disorders. Journal of biomedical science 16 29310658
2012 ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes. Journal of neurology 15 23108492
1997 Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3. Human genetics 15 9341882
2014 Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia. Journal of the neurological sciences 14 25454648
2005 Haplotype study of intermediate-length alleles at the fragile X (FMR1) gene: ATL1, FMRb, and microsatellite haplotypes differ from those found in common-size FMR1 alleles. Human biology 12 16114822
2012 SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. Annals of nuclear medicine 10 23233086
2008 Maintenance of mitochondrial DNA by the Caenorhabditis elegans ATR checkpoint protein ATL-1. Genetics 9 18716329
2023 Circ-ATL1 silencing reverses the activation effects of SIRT5 on smooth muscle cellular proliferation, migration and contractility in intracranial aneurysm by adsorbing miR-455. BMC molecular and cell biology 8 36717793
2011 Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family. Journal of clinical neuromuscular disease 8 21321493
2012 Synthesis of oligodeoxyribonucleotides containing a conformationally-locked anti analogue of O6-methyl-2'-deoxyguanosine and their recognition by MGMT and Atl1. Chemical communications (Cambridge, England) 7 23059787
2007 [SPG3A-hereditary spastin paraplegia with genetic anticipation and incomplete penetrance]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 7 17285536
2017 Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients. Annals of human genetics 6 28736820
2013 Caenorhabditis elegans ATR checkpoint kinase ATL-1 influences life span through mitochondrial maintenance. Mitochondrion 6 23434802
2022 Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET. Neurogenetics 5 35788923
2009 Complex phenotype in an Italian family with a novel mutation in SPG3A. Journal of neurology 5 19768483
2020 Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A. Scientifica 4 32322428
2014 Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia. Autonomic neuroscience : basic & clinical 4 24969372
2009 Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. Hong Kong medical journal = Xianggang yi xue za zhi 4 19652243
2019 Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature. World journal of clinical cases 3 31236401
2015 Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation. Genetics and molecular research : GMR 3 26600529
2009 Novel SPG3A and SPG4 mutations in two patients with Silver syndrome. Journal of clinical neuromuscular disease 3 19730024
2008 Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia. Journal of neurogenetics 3 19085270
2024 Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A. Journal of neurology 2 39003427
2022 ATL1 inhibits the proliferation and invasion of trophoblast cells via inhibition of the mTOR signaling pathway. Journal of biochemical and molecular toxicology 2 36193555
2020 Synthesis of oligodeoxyribonucleotides containing a tricyclic thio analogue of O6-methylguanine and their recognition by MGMT and Atl1. Nucleosides, nucleotides & nucleic acids 1 32449465
2026 Subclinical involvement of central nervous system structures other than motor or sensory tracts in SPG3A and SPG4 patients. BMC neurology 0 41507865
2026 [Analysis of a three-generation Chinese pedigree affected with Hereditary spastic paraplegia type 3A due to variant of ATL1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 41663303
2025 LXR agonist rescues synaptic dysfunction and degeneration in SPG3A patient-specific iPSC-derived neurons. Acta neuropathologica communications 0 41250225
2024 Development and Application of a Slot-Blot Assay Using the Damage Sensing Protein Atl1 to Detect and Quantify O6-Alkylated Guanine Bases in DNA. Toxics 0 39330577
2023 [A case of spastic paraplegia with SPG4 and SPG3 associated mutations]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 0 37315258
2017 SPG3A gene polymorphisms in hereditary spastic paraplegia. International journal of clinical and experimental pathology 0 31966859

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