SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20-Reference-Cited by-同舟云学术

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

Published:2018-04-09 Issue:11 Volume:27 Page:1927-1940
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Bryant Dale¹,Liu Yang²,Datta Sanchari²,Hariri Hanaa²,Seda Marian¹,Anderson Glenn³,Peskett Emma¹,Demetriou Charalambos¹,Sousa Sergio⁴,Jenkins Dagan¹,Clayton Peter¹,Bitner-Glindzicz Maria¹,Moore Gudrun E¹,Henne W Mike²,Stanier Philip¹

Affiliation:

1. Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK

2. Department of Cell Biology, UT Southwestern Medical Center, Dallas, TX 75390, USA

3. Histopathology Department, Great Ormond Street Hospital, London WC1N 3JH, UK

4. Serviço de Genética Medica, Hospital Pediatrico, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal

Funder

Welch Foundation

National Institute of General Medical Sciences

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/11/1927/25087179/ddy101.pdf

Reference42 articles.

1. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome;Thomas;Am. J. Hum. Genet,2014

2. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction;Akizu;Nat. Genet,2015

3. Exome sequencing and linkage analysis identified novel candidate genes in recessive intellectual disability associated with ataxia;Jazayeri;Arch. Iranian Med,2015

4. Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease;Karaca;Neuron,2015

5. Autosomal recessive spinocerebellar ataxia 20: report of a new patient and review of literature;Shukla;Eur. J. Med. Genet,2017

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