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NCL disease mechanisms

Published:2013-11 Issue:11 Volume:1832 Page:1882-1893
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Palmer David N.,Barry Lucy A.,Tyynelä Jaana,Cooper Jonathan D.

Funder

US National Institutes of Health

Neurological Foundation of New Zealand

Batten Disease Support and Research Association

Pub Charities New Zealand

Batten Disease Family Association

NCL Stiftung

Natalie Fund

Wellcome Trust

European Union (including DEM-CHILD funding from the European Community's Seventh Framework Programme (FP7/2007 — 2013)

Academy of Finland

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference169 articles.

1. Isolation of genes from the Batten candidate region using exon amplification. Batten Disease Consortium;Lerner;Am. J. Med. Genet.,1995

2. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis;Vesa;Nature,1995

3. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis;Sleat;Science,1997

4. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis;Nosková;Am. J. Hum. Genet.,2011

5. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage;Smith;Am. J. Hum. Genet.,2012

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

3. Akap5 links synaptic dysfunction to neuroinflammatory signaling in a mouse model of infantile neuronal ceroid lipofuscinosis;Frontiers in Synaptic Neuroscience;2024-05-10

4. Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions;Genes;2024-02-15

5. Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease;Scientific Reports;2023-10-29

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