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Article

SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.

Scientific reports - 18 Aug 2015

Rahman Mohammad Alinoor, Azuma Yoshiteru, Nasrin Farhana, Takeda Jun-ichi, Nazim Mohammad, Bin Ahsan Khalid, Masuda Akio, Engel Andrew G, Ohno Kinji

Abstract excerpt

The catalytic subunits of acetylcholinesterase (AChE) are anchored in the basal lamina of the neuromuscular junction using a collagen-like tail subunit (ColQ) encoded by COLQ. Mutations in COLQ cause endplate AChE deficiency. An A-to-G mutation predicting p.E415G in COLQ exon 16 identified in a patient with endplate AChE deficiency causes exclusive skipping of exon 16. RNA affinity purification, mass...

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Share to Acetylcholinesterase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myasthenic Syndromes, Congenital

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Source

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Identifiers

PMID: 26282582
DOI: 10.1038/srep13208
PMCID: PMC4539547

Genes

SRSF1
COLQ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.PMID 26282582Read ↗

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?Semantic proximity Read ↗

SRSF6 and SRSF1 coordinately enhance the inclusion of human MUSK exon 10 to generate a Wnt-sensitive MuSK isoformSemantic proximity Read ↗

Competitive regulation of alternative splicing and alternative polyadenylation by hnRNP H and CstF64 determines acetylcholinesterase isoformsSemantic proximity Read ↗

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.Semantic proximity Read ↗

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.Semantic proximity Read ↗

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Mutations in the C-Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ-MuSK InteractionSemantic proximity Read ↗

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.Semantic proximity Read ↗

A humanized knock-in <i>Col6a1</i> mouse recapitulates a deep-intronic splice-activating variantSemantic proximity Read ↗

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.Semantic proximity Read ↗

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