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Article

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.

Human molecular genetics - 15 Sept 2018

Issop Yasmin, Hathazi Denisa, Khan Muzamil Majid, Rudolf Rüdiger, Weis Joachim, Spendiff Sally, Slater Clarke R, Roos Andreas, Lochmüller Hanns

Abstract excerpt

Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein and lipid glycosylation. Mutations in GFPT1 and other genes downstream of this pathway cause congenital myasthenic syndrome (CMS) characterized by fatigable muscle weakness owing to impaired neurotransmission. The precise pathomechanisms at the...

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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

Open in PubMed Open full text

Identifiers

PMID: 29905857
DOI: 10.1093/hmg/ddy225
PMCID: PMC6121184

Genes

GFPT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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