Affinage

AMN

Protein amnionless · UniProt Q9BXJ7

Round 2 corrected
Length
453 aa
Mass
47.8 kDa
Annotated
2026-04-28
69 papers in source corpus 14 papers cited in narrative 15 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

AMN (amnionless) is the obligate transmembrane anchor of the cubam endocytic receptor complex, essential for vitamin B12 absorption in the intestine and protein reabsorption in the kidney. AMN binds the EGF domains of cubilin, promotes its N-linked glycosylation, mediates ER export, and delivers the complex to the apical plasma membrane of polarized epithelia; without AMN, cubilin is retained in the ER and fails to reach the cell surface (PMID:14576052, PMID:29402915, PMID:15845892). Two cytoplasmic FXNPXF motifs in AMN recruit the clathrin-associated adaptors Dab2 and ARH to drive endocytosis of cubilin-bound ligands including intrinsic factor–cobalamin (PMID:20088845). Loss-of-function mutations in AMN cause Imerslund–Gräsbeck syndrome (selective intestinal vitamin B12 malabsorption with proteinuria), and in mouse visceral endoderm AMN is additionally required non-autonomously for middle primitive streak formation (PMID:12590260, PMID:9851841).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1998 Medium

    Chimera experiments established that AMN functions cell-non-autonomously in the visceral endoderm to direct middle primitive streak formation, answering whether the gene acts within the embryo proper or in extra-embryonic tissue.

    Evidence ES cell↔blastocyst chimera analysis with amnionless-/- blastocysts and wild-type ES cells, histological and molecular phenotyping

    PMID:9851841

    Open questions at the time
    • The downstream signaling pathway through which visceral endoderm AMN influences primitive streak assembly remains unidentified
    • Direct biochemical interaction of AMN with BMP ligands has not been demonstrated
  2. 2001 Medium

    Cloning of AMN revealed a type I transmembrane protein with a cysteine-rich ectodomain resembling BMP-binding modules, placing it at the intersection of transmembrane receptor biology and possible morphogen regulation.

    Evidence Gene cloning, transgene-induced insertional mutation, domain homology analysis, in situ hybridization in mouse embryos

    PMID:11279523

    Open questions at the time
    • BMP-binding capacity was inferred from domain homology; direct ligand-binding experiments are lacking
    • Relationship between the putative BMP-binding domain and the cubilin-binding function was not addressed
  3. 2003 High

    Demonstration that AMN and cubilin form the cubam complex answered how the peripheral membrane protein cubilin reaches the cell surface and internalizes ligands, revealing AMN as both the membrane anchor and trafficking chaperone for cubilin.

    Evidence Co-purification by IF-cobalamin affinity chromatography and gel filtration; cotransfection of polarized epithelial cells; ligand endocytosis and lysosomal degradation assays

    PMID:14576052

    Open questions at the time
    • Stoichiometry of the AMN–cubilin complex was not determined
    • Whether AMN itself contributes to ligand recognition was not resolved
  4. 2003 Medium

    Human genetic analysis showed that AMN mutations in exons 1–4 cause Imerslund–Gräsbeck syndrome without embryonic lethality, resolving the paradox between the severe mouse phenotype and human disease by demonstrating alternative downstream translation initiation.

    Evidence Mutation screening in IGS patients, translation initiation site mapping

    PMID:12590260

    Open questions at the time
    • Precise functional domains of the truncated AMN isoform were not mapped
    • Whether the shorter AMN isoform has reduced affinity for cubilin was not tested
  5. 2004 High

    In vivo chimera studies in adult mice showed that AMN-null tissues fail to localize cubilin to the cell surface and exhibit selective proteinuria of cubilin ligands, establishing AMN as essential for cubilin surface targeting across multiple polarized epithelia.

    Evidence ES cell↔blastocyst chimeras, immunolocalization of cubilin in kidney and yolk sac, urinary protein analysis

    PMID:15342463

    Open questions at the time
    • The intracellular fate of cubilin in AMN-null cells (ER vs. degradation) was not determined at this stage
  6. 2005 High

    Domain-mapping in polarized cells identified the cubilin EGF domains as the AMN-binding interface and showed AMN mediates ER export while cubilin contributes carbohydrate-dependent apical sorting signals, delineating the division of labor in cubam trafficking.

    Evidence Expression of cubilin and AMN domain fragments in MDCK cells, co-immunoprecipitation, tunicamycin treatment, apical vs. basolateral surface biotinylation

    PMID:15845892 PMID:15976000

    Open questions at the time
    • Structural basis for the AMN–EGF domain interaction was not resolved
    • Identity of the ER quality-control checkpoint recognizing unpaired cubilin was not defined
  7. 2008 High

    Silencing experiments in kidney cells revealed that both AMN and megalin are independently required for cubilin intracellular stability, establishing a tripartite complex (cubilin–AMN–megalin) at the renal brush border.

    Evidence Ligand-affinity chromatography and co-IP of renal brush-border membranes, siRNA silencing of megalin and AMN, cubilin half-life measurement

    PMID:17990981

    Open questions at the time
    • Whether cubilin degradation upon AMN loss proceeds through proteasomal or lysosomal pathways was not determined
    • Relative contributions of AMN versus megalin to cubilin stability were not quantitatively separated
  8. 2010 High

    Identification of two redundant FXNPXF motifs in the AMN cytoplasmic tail that recruit Dab2 and ARH explained the molecular basis for clathrin-mediated cubam endocytosis.

    Evidence Sequential mutagenesis of AMN FXNPXF motifs, yeast two-hybrid interaction with Dab2 and ARH, functional endocytosis assays

    PMID:20088845

    Open questions at the time
    • Relative in vivo contribution of Dab2 versus ARH to cubam endocytosis in different tissues was not resolved
    • Phosphorylation or other post-translational regulation of the FXNPXF motifs was not assessed
  9. 2012 High

    Cross-species rescue of Drosophila nephrocyte protein uptake by human AMN demonstrated evolutionary conservation of AMN–cubilin co-receptor function, extending the paradigm beyond vertebrate polarized epithelia.

    Evidence Drosophila nephrocyte RNAi of dAMN, transgenic rescue with human AMN, protein uptake assays, electron microscopy

    PMID:23264686

    Open questions at the time
    • Whether the AMN cytoplasmic endocytic signals are conserved in Drosophila was not tested
    • Ligand specificity of the fly cubam complex is poorly defined
  10. 2014 Medium

    Absence of megalin protein in human terminal ileum despite cubilin–AMN co-expression showed that cubam can function megalin-independently for intestinal vitamin B12 absorption, resolving tissue-specific receptor composition.

    Evidence Immunohistochemistry and quantitative RT-PCR for LRP2 in adult human terminal ileum

    PMID:25052491

    Open questions at the time
    • Functional endocytosis data confirming megalin-independence in ileum were not provided
    • Whether an alternative endocytic co-receptor substitutes for megalin in ileum is unknown
  11. 2018 High

    Quantitative mass spectrometry and mutagenesis demonstrated that AMN-dependent N-linked glycosylation of cubilin—not merely physical association—is the critical step for ER-to-plasma-membrane trafficking, explaining how pathogenic missense mutations cause ER retention and disease.

    Evidence Quantitative membrane targeting assay, mass spectrometry of cubilin glycosylation sites, site-directed mutagenesis, patient-derived renal proximal tubular cell analysis

    PMID:29402915

    Open questions at the time
    • How AMN promotes cubilin glycosylation mechanistically (chaperone vs. conformation-enabling) is not resolved
    • Structural model of the AMN–cubilin interface at the ER remains unavailable

Open questions

Synthesis pass · forward-looking unresolved questions
  • The structural basis for AMN–cubilin interaction, the mechanism by which AMN facilitates cubilin glycosylation, and the signaling pathway downstream of AMN in visceral endoderm remain unresolved.
  • No high-resolution structure of the AMN–cubilin complex exists
  • The embryonic signaling function of AMN has not been linked to a specific ligand or pathway
  • Tissue-specific regulatory mechanisms controlling AMN expression are largely undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0038024 cargo receptor activity 3 GO:0060090 molecular adaptor activity 3
Localization
GO:0005886 plasma membrane 5 GO:0005783 endoplasmic reticulum 2 GO:0005768 endosome 1
Pathway
R-HSA-382551 Transport of small molecules 3 R-HSA-5653656 Vesicle-mediated transport 3 R-HSA-1266738 Developmental Biology 2 R-HSA-9609507 Protein localization 2
Partners
CUBNDAB2LDLRAP1LRP2
Complex memberships
cubam (cubilin–AMN)

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 AMN encodes a novel type I transmembrane protein expressed exclusively in the extra-embryonic visceral endoderm during mouse gastrulation. The extracellular region contains a cysteine-rich domain with similarity to BMP-binding domains in chordin and Short gastrulation, suggesting AMN may modulate a BMP signaling pathway in the visceral endoderm to direct trunk mesoderm formation from the middle primitive streak. Gene cloning, transgene-induced insertional mutation, in situ hybridization, domain analysis, mouse embryo phenotyping Nature genetics Medium 11279523
1998 The amn gene product is required in extraembryonic tissues (visceral endoderm) for the generation of middle primitive streak derivatives. Chimera experiments using wild-type ES cells in amnionless-/- blastocysts demonstrated that the amnionless function in visceral endoderm is cell-non-autonomous with respect to the embryo proper, establishing a signaling role for AMN in the visceral endoderm during gastrulation. ES cell↔blastocyst chimera analysis, histological and molecular phenotyping of amnionless mutant embryos Developmental biology Medium 9851841
2003 Cubilin and AMN form a tight heteromeric complex (cubam). AMN binds to the amino-terminal third of cubilin, directs cubilin trafficking from early biosynthetic compartments to the cell surface and endosomes, and enables intrinsic factor-cobalamin endocytosis and lysosomal degradation. Neither protein alone confers ligand endocytosis; cotransfection of both is required for functional receptor activity. Co-purification by IF-cobalamin affinity chromatography and non-denaturing gel filtration; transfection of polarized epithelial cells; colocalization by immunofluorescence; ligand endocytosis and lysosomal degradation assays Blood High 14576052
2003 Homozygous mutations affecting exons 1–4 of human AMN cause selective intestinal malabsorption of vitamin B12 (Imerslund-Gräsbeck syndrome) without affecting embryonic development, indicating the 5′ end of AMN is dispensable for gastrulation but necessary for cobalamin absorption. When the 5′ end is truncated, translation initiates from alternative downstream start codons. Human genetic mutation analysis, translation initiation site mapping Nature genetics Medium 12590260
2004 AMN is expressed in kidney proximal tubules and intestinal epithelium in addition to visceral endoderm. In Amn−/− ES cell↔wild-type blastocyst chimeras, Cubn is not properly localized to the cell surface in Amn−/− tissues, adult chimeras exhibit selective proteinuria of Cubn ligands, and Amn−/− embryos show failure of epiblast growth linked to middle primitive streak assembly. This establishes AMN as an essential in vivo component of the Cubn receptor complex mediating endocytosis/transcytosis in polarized epithelia. ES cell↔blastocyst chimera generation, immunolocalization of Cubn in embryo and adult mouse tissues, urinary protein analysis Development (Cambridge, England) High 15342463
2005 In vivo canine models of I-GS with AMN mutations (in-frame deletion in exon 10 or substitution in the translation initiation codon) demonstrate that loss of AMN expression blocks cubilin processing and targeting to the apical brush-border membrane, abolishing functional receptor activity. These features are recapitulated in a heterologous cell-transfection system, validating AMN's essential role in cubilin apical membrane targeting. Canine genetic model, in vivo tissue studies, heterologous cell transfection, immunohistochemistry Blood High 15845892
2005 AMN interacts with the EGF domains of cubilin (not the N-terminal domain) and is responsible for membrane attachment and ER export of the cubilin-AMN complex. Cubilin itself mediates apical sorting in a carbohydrate-dependent manner (sensitive to tunicamycin). Truncated cubilin constructs lacking the N-terminal domain reach the apical membrane only when co-expressed with AMN. Expression of AMN and cubilin fragments in polarized MDCK cells, co-immunoprecipitation, colocalization, tunicamycin treatment Journal of the American Society of Nephrology High 15976000
2008 In renal brush-border membranes, cubilin exists in a functional complex with both AMN and megalin. Three distinct regions of cubilin (N-terminus, CUB domains 12–17, CUB domains 22–27) show Ca2+-dependent binding to megalin in vitro. Silencing megalin or AMN in opossum kidney cells reduces cubilin levels by 85–90% and decreases cubilin half-life 2-fold, indicating that interactions with both megalin and AMN are required for cubilin intracellular stability. Ligand-affinity chromatography, immunoprecipitation of renal brush-border membranes, in vitro Ca2+-dependent binding assays, gene silencing (siRNA), turnover/half-life studies, immunohistochemistry The Biochemical journal High 17990981
2010 The cytosolic domain of AMN contains two FXNPXF motifs that are functionally redundant and mediate cubam endocytosis by interacting with the clathrin-associated sorting proteins Dab2 and ARH. Sequential mutagenesis of each motif combined with yeast two-hybrid analysis demonstrated that either signal alone is sufficient to drive endocytosis through Dab2 or ARH. Sequential mutagenesis of AMN cytoplasmic FXNPXF motifs, expression of AMN mutant panel, yeast two-hybrid interaction assays, functional endocytosis assays Traffic (Copenhagen, Denmark) High 20088845
2011 Compound heterozygous AMN mutations (premature termination codons in exons 6 and 7) dramatically decrease cubilin receptor activity at the luminal surface of intestinal cells in humans, despite normal cubilin affinity for intrinsic factor. This demonstrates that AMN is essential for correct luminal (apical) expression of cubilin in vivo. Human genetic analysis, measurement of cubilin receptor activity in urine, intrinsic factor binding affinity assay Haematologica Medium 21750092
2012 Drosophila orthologs of cubilin (dCubilin) and amnionless (dAMN) are specifically expressed in nephrocytes where they function as co-receptors for protein uptake. Human AMN expressed in Drosophila nephrocytes rescues the protein-uptake defect caused by dAMN knockdown, demonstrating evolutionary conservation of cubilin/AMN co-receptor function. Cubilin/AMN-mediated protein reabsorption is required for maintenance of nephrocyte ultrastructure and fly survival under toxic stress. Genetic screen, targeted RNAi knockdown in Drosophila nephrocytes, transgenic rescue with human AMN, protein uptake assays, electron microscopy of ultrastructure Journal of the American Society of Nephrology High 23264686
2014 In adult human terminal ileum, cubilin and AMN co-localize to epithelial cells but megalin protein is absent (with extremely low LRP2 mRNA). This demonstrates that cubilin and AMN can function independently of megalin for vitamin B12 absorption in the intestine, establishing tissue-specific and ligand-specific dependence on megalin. Immunohistochemistry, quantitative RT-PCR for LRP2 mRNA in adult human terminal ileum tissue Physiological reports Medium 25052491
2018 AMN-mediated glycosylation of cubilin is necessary (not merely AMN-cubilin interaction) for plasma membrane expression of the complex. N-linked glycosylation of at least 4 cubilin residues is required for surface targeting. Pathogenic AMN and CUBN missense mutations cause ER retention and completely block amnionless-dependent plasma membrane expression of cubilin, as confirmed in renal proximal tubular cells from an IGS patient. Quantitative membrane targeting assay in cultured renal and intestinal cells, quantitative mass spectrometry, site-directed mutagenesis of N-glycosylation sites, patient-derived proximal tubular cell analysis Scientific reports High 29402915
2022 In Drosophila nephrocytes, store-operated calcium entry (SOCE) mediated by Stim/Orai regulates the abundance and localization of dAMN (the amnionless ortholog). RNAi knockdown of Stim or Orai reduced dAMN abundance, impaired albumin binding and endocytosis, and disrupted slit diaphragm organization. Calcium chelation (EGTA) reduced albumin binding following pre-treatment, linking SOCE to AMN-dependent endocytic function. GCaMP6 calcium imaging in vivo and in vitro, RNAi knockdown of SOCE genes (Stim, Orai), pharmacological inhibition (EGTA, 2-APB), albumin uptake assay, immunolocalization of dAMN Journal of insect physiology Medium 36341969
2025 In a Drosophila model of Dent's disease, depletion of ClC-c (fly homolog of CLCN5) causes Cubilin to accumulate in the ER and lose cortical localization in nephrocytes, with a strong decrease in albumin uptake. The authors speculate that ClC-c and V-ATPase together acidify the Golgi to allow proper glycosylation and surface trafficking of Cubilin or its binding partner Amnionless. ER retention of Cubilin was confirmed in ClC-5 knockout mice, supporting relevance to AMN-cubilin trafficking. Drosophila nephrocyte RNAi, immunolocalization of Cubilin and Amnionless, albumin uptake assay, ER marker colocalization, ClC-5 knockout mouse validation bioRxivpreprint Low

Source papers

Stage 0 corpus · 69 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America 1479 12477932
2015 The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell 1118 26186194
2017 Architecture of the human interactome defines protein communities and disease networks. Nature 1085 28514442
2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell 1015 26496610
1993 Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1003 8441467
2005 The DNA sequence of the human X chromosome. Nature 816 15772651
2006 Biochemistry of mammalian peroxisomes revisited. Annual review of biochemistry 761 16756494
2021 Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Cell 705 33961781
2012 A census of human soluble protein complexes. Cell 689 22939629
2011 Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Briefings in bioinformatics 656 21873635
2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome research 438 15489334
2021 A proximity-dependent biotinylation map of a human cell. Nature 339 34079125
2012 Interpreting cancer genomes using systematic host network perturbations by tumour virus proteins. Nature 319 22810586
2016 Identification of Zika Virus and Dengue Virus Dependency Factors using Functional Genomics. Cell reports 306 27342126
1981 Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proceedings of the National Academy of Sciences of the United States of America 272 6795626
2000 PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. The Journal of cell biology 259 10704444
1984 Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy. Annals of neurology 253 6524872
1994 The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Human molecular genetics 230 8004093
2001 ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Human mutation 226 11748843
2003 The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. Blood 219 14576052
2011 Toward an understanding of the protein interaction network of the human liver. Molecular systems biology 207 21988832
2008 The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 187 18757502
2014 X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain : a journal of neurology 176 24480483
2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. Schizophrenia research 172 20889312
2009 Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. Molecular psychiatry 170 19204726
2019 Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms. Nature cell biology 137 31871319
2017 RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. BMC biology 135 29117863
2013 Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction. The Journal of biological chemistry 115 23671276
1995 Altered expression of ALDP in X-linked adrenoleukodystrophy. American journal of human genetics 115 7668254
1995 Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. American journal of human genetics 115 7825602
1999 Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. The Journal of biological chemistry 114 10551832
2003 Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. Nature genetics 108 12590260
2001 The amnionless gene, essential for mouse gastrulation, encodes a visceral-endoderm-specific protein with an extracellular cysteine-rich domain. Nature genetics 107 11279523
2005 Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo. Blood 94 15845892
2012 Cubilin and amnionless mediate protein reabsorption in Drosophila nephrocytes. Journal of the American Society of Nephrology : JASN 88 23264686
2005 Contribution of cubilin and amnionless to processing and membrane targeting of cubilin-amnionless complex. Journal of the American Society of Nephrology : JASN 73 15976000
2004 Mouse amnionless, which is required for primitive streak assembly, mediates cell-surface localization and endocytic function of cubilin on visceral endoderm and kidney proximal tubules. Development (Cambridge, England) 69 15342463
1999 Developmental expression of an amn(+) transgene rescues the mutant memory defect of amnesiac adults. The Journal of neuroscience : the official journal of the Society for Neuroscience 68 10516293
2008 Interactions of cubilin with megalin and the product of the amnionless gene (AMN): effect on its stability. The Biochemical journal 50 17990981
2010 AMN directs endocytosis of the intrinsic factor-vitamin B(12) receptor cubam by engaging ARH or Dab2. Traffic (Copenhagen, Denmark) 46 20088845
2017 Albumin uptake in human podocytes: a possible role for the cubilin-amnionless (CUBAM) complex. Scientific reports 44 29057905
1998 The amn gene product is required in extraembryonic tissues for the generation of middle primitive streak derivatives. Developmental biology 43 9851841
2017 Vitamin B12 deficiency and impaired expression of amnionless during aging. Journal of cachexia, sarcopenia and muscle 39 29159972
2007 Multiligand endocytosis and congenital defects: roles of cubilin, megalin and amnionless. Current pharmaceutical design 36 17979745
2018 Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells. Scientific reports 28 29402915
1996 A candidate gene for the amnionless gastrulation stage mouse mutation encodes a TRAF-related protein. Developmental biology 28 8660894
1989 Structure and regulation of the AMP nucleosidase gene (amn) from Escherichia coli. Biochemistry 22 2690948
2014 Lack of megalin expression in adult human terminal ileum suggests megalin-independent cubilin/amnionless activity during vitamin B12 absorption. Physiological reports 21 25052491
2011 Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. Haematologica 21 21750092
2001 ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN. Neurology 21 11739809
2008 Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS. Journal of inherited metabolic disease 20 18181028
2015 Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report. BMC medical genetics 14 26040326
2014 Dab2, megalin, cubilin and amnionless receptor complex might mediate intestinal endocytosis in the suckling rat. Journal of cellular biochemistry 14 24122887
2013 Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. Italian journal of pediatrics 11 24044590
2022 Insect nephrocyte function is regulated by a store operated calcium entry mechanism controlling endocytosis and Amnionless turnover. Journal of insect physiology 7 36341969
2019 Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report. International journal of molecular sciences 7 30691194
2006 Variations of the Amnionless gene in recurrent spontaneous abortions. Molecular human reproduction 7 16403802
2017 Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN). Stem cell research 6 29065337
2009 Activity of nilotinib (AMN-107) alone in advanced gastrointestinal stromal tumors progressing on imatinib and sunitinib. Case report. Chemotherapy 6 19188713
2011 Expression of amnionless in mouse testes and Leydig cells. Andrologia 5 21974783
2023 A historical look using virtual microscopy: the first case report of adrenomyeloneuropathy (AMN). Free neuropathology 3 37915358
2021 Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene. International journal of laboratory hematology 3 33491342
2005 Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan. Saudi medical journal 3 16047053
2005 Is AMN-107 a step forward from imatinib in the treatment of chronic myeloid leukaemia? Expert opinion on investigational drugs 2 16050798
2026 A‑Site and Epitaxial Strain Effect on the Properties of AMn3Sb5 (A = K, Cs, and Rb) Kagome Lattices. ACS omega 0 41696308
2025 Benign proximal tubular albuminuria due to AMN mutation: A challenging presentation of Imerslund-Gräsbeck syndrome. Pediatric nephrology (Berlin, Germany) 0 41236624
2024 Generating human AMN and cALD iPSC-derived astrocytes with potential for modeling X-linked adrenoleukodystrophy phenotypes. bioRxiv : the preprint server for biology 0 38854155
2024 Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report. Italian journal of pediatrics 0 39334390
2015 [Effect of amn gene deletion on Corynebacterium glutamicum S9114 metabolism]. Wei sheng wu xue bao = Acta microbiologica Sinica 0 27101699