Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: Broadening of the phenotype

Skeletal Muscle

Volumn 5, Issue 1, 2015, Pages

  Liang, Wen Chen ^a,b   Zhu, Wenhua ^d,e,f   Mitsuhashi, Satomi ^d,e   Noguchi, Satoru ^d,e   Sacher, Michael ^g,h   Ogawa, Megumu ^d   Shih, Hsiang Hung ^a,b   Jong, Yuh Jyh ^a,c,i   Nishino, Ichizo ^d,e  

^a KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^c KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^e NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^f FUDAN UNIVERSITY   (China)

^g Civil and Environmental Engineering   (Canada)

^h MCGILL UNIVERSITY   (Canada)

ⁱ NATIONAL CHIAO TUNG UNIVERSITY   (Taiwan)

Author keywords

Cataract; Congenital muscular dystrophy; Endoplasmic reticulum to Golgi trafficking; Steatosis; Transport protein particle (TRAPP)

Indexed keywords

DANIO RERIO;

EID: 84940209433     PISSN: None     EISSN: 20445040     Source Type: Journal    
DOI: 10.1186/s13395-015-0056-4     Document Type: Article

References (11)

1. Kim YG, Raunser S, Munger C, Wagner J, Song YL, Cygler M, et al. The architecture of the multisubunit TRAPP I complex suggests a model for vesicle tethering. Cell. 2006;127:817-30.
2. Wendler F, Gillingham AK, Sinka R, Rosa-Ferreira C, Gordon DE, Franch-Marro X, et al. A genome-wide RNA interference screen identifies two novel components of the metazoan secretory pathway. EMBO J. 2010;29:304-14.
3. Scrivens PJ, Noueihed B, Shahrzad N, Hul S, Brunet S, Sacher M. C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking. Mol Biol Cell. 2011;22:2083-93.
4. Sadler KC, Amsterdam A, Soroka C, Boyer J, Hopkins N. A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease. Development. 2005;132:3561-72.
5. Gross JM, Perkins BD, Amsterdam A, Egaña A, Darland T, Matsui JI, et al. Identification of zebrafish insertional mutants with defects in visual system development and function. Genetics. 2005;170:245-61.
6. Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, et al. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorders and intellectual disability. Am J Hum Genet. 2013;93:181-90.
7. Scrivens PJ, Shahrzad N, Moores A, Morin A, Brunet S, Sacher M. TRAPPC2L is a novel, highly conserved TRAPP-interacting protein. Traffic. 2009;10:724-36.
8. Haynes RL, Billiards SS, Borenstein NS, Volpe JJ, Kinney HC. Diffuse axonal injury in periventricular leukomalacia as determined by apoptotic marker fractin. Pediat Res. 2008;63:656-61.
9. Alam GCA, Sahu WCS. Magnetic resonance imaging in evaluation of periventricular leukomalacia. MJAFI. 2010;66:374-80.
10. Steenweg NE, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GMS, et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain. 2010;133:2971-82.
11. Dupuis N, Fafouri A, Bayot A, Kumar M, Lecharpentier T, Ball G, et al. Dymeclin deficiency causes postnatal microcephaly, hypomelination and reticulum-to-Golgi trafficking defects in mice and humans. Hum Mol Genet. 2015;24:2771-83.