TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient-Reference-Cited by-同舟云学术

TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient

Published:2024-05 Issue:1 Volume:142 Page:108469
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Corona-Rivera Jorge Román,Martínez-Duncker Iván,Morava Eva,Ranatunga Wasantha,Salinas-Marin Roberta,González-Jaimes Ana María,Castillo-Reyes Katia Alejandra,Peña-Padilla Christian,Bobadilla-Morales Lucina,Corona-Rivera Alfredo,Orozco-Vela Mireya,Brukman-Jiménez Sinhue Alejandro

Funder

CONACYT

Universidad de Guadalajara

National Institutes of Health

Publisher

Elsevier BV

Reference34 articles.

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2. Biochemical structure and function of TRAPP complexes in the cardiac system;Papaioannou;JACC Basic Transl. Sci.,2023

3. Cryo-EM structure of metazoan TRAPPIII, the multi-subunit complex that activates the GTPase Rab1;Galindo;EMBO J.,2021

4. C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking;Scrivens;Mol. Biol. Cell,2011

5. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability;Bögershausen;Am. J. Hum. Genet.,2013

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification ofCNTN2as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing inDrosophila;2024-08-12

2. Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis;Journal of Medical Genetics;2024-07-02