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Article

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.

Skeletal muscle - 31 May 2018

Larson Austin A, Baker Peter R, Milev Miroslav P, Press Craig A, Sokol Ronald J, Cox Mary O, Lekostaj Jacqueline K, Stence Aaron A, Bossler Aaron D, Mueller Jennifer M, Prematilake Keshika, Tadjo Thierry Fotsing, Williams Charles A, Sacher Michael, Moore Steven A

Abstract excerpt

BACKGROUND: Transport protein particle (TRAPP) is a supramolecular protein complex that functions in localizing proteins to the Golgi compartment. The TRAPPC11 subunit has been implicated in muscle disease by virtue of homozygous and compound heterozygous deleterious mutations being identified in individuals with limb girdle muscular dystrophy and congenital muscular dystrophy. It remains unclear how this protein...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29855340
DOI: 10.1186/s13395-018-0163-0
PMCID: PMC5984345

Genes

TRAPPC11
GOSR2

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.

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