A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers-Reference-Cited by-同舟云学术

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

Published:2011-06 Issue:3 Volume:42 Page:468-474
ISSN:0969-9961
Container-title:Neurobiology of Disease
language:en
Short-container-title:Neurobiology of Disease

Author:

Farias Fabiana H.G.,Zeng Rong,Johnson Gary S.,Wininger Fred A.,Taylor Jeremy F.,Schnabel Robert D.,McKay Stephanie D.,Sanders Douglas N.,Lohi Hannes,Seppälä Eija H.,Wade Claire M.,Lindblad-Toh Kerstin,O'Brien Dennis P.,Katz Martin L.

Funder

American Kennel Club Canine Health Foundation

Batten Disease Support and Research Association (BDSRA)

Research to Prevent Blindness, Inc.

Publisher

Elsevier BV

Subject

Neurology

Reference48 articles.

1. A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis;Abitbol;Proc. Natl. Acad. Sci. USA,2010

2. Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studies;Alroy;Acta Neuropathol.,1992

3. A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis;Awano;Mol. Genet. Metab.,2006

4. A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis;Awano;Mol. Genet. Metab.,2006

5. Evolution of substrate specificities in the P-type ATPase superfamily;Axelsen;J. Mol. Evol.,1998

Cited by 111 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. Mechanisms of autophagy–lysosome dysfunction in neurodegenerative diseases;Nature Reviews Molecular Cell Biology;2024-08-06

2. Nigral ATP13A2 depletion induces Parkinson’s disease-related neurodegeneration in a pilot study in non-human primates;npj Parkinson's Disease;2024-08-01

3. Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6;Animal Genetics;2024-06-12

4. Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6;Genes;2024-05-23

5. Nigral ATP13A2 depletion induces Parkinson's disease-related neurodegeneration in non-human primates;2024-01-22