A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease)

(2014) Martin L. Katz et al.   JOURNAL OF NEUROSCIENCE RESEARCH

A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry

(2014) Juyuan Guo et al.   MOLECULAR GENETICS AND METABOLISM

Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease

(2014) Markus Damme et al.   NEUROBIOLOGY OF DISEASE

The MaSuRCA genome assembler

(2013) Aleksey V. Zimin et al.   BIOINFORMATICS

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

(2013) K. R. Smith et al.   HUMAN MOLECULAR GENETICS

Structural advances for the major facilitator superfamily (MFS) transporters

(2013) Nieng Yan   TRENDS IN BIOCHEMICAL SCIENCES

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

(2012) John F. Staropoli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice

(2012) B. Kowalewski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

(2011) Lenka Nosková et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Degenerative Myelopathy in a Bernese Mountain Dog with a Novel SOD1 Missense Mutation

(2011) F.A. Wininger et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis

(2011) Brian R. Vuillemenot et al.   MOLECULAR GENETICS AND METABOLISM

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

(2011) Fabiana H.G. Farias et al.   NEUROBIOLOGY OF DISEASE

A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier

(2011) Anne Wöhlke et al.   PLoS Genetics

The neuronal ceroid lipofuscinoses: the same, but different?

(2010) Jonathan D. Cooper   BIOCHEMICAL SOCIETY TRANSACTIONS

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

(2010) A. Sharifi et al.   HUMAN MOLECULAR GENETICS

A Missense Mutation in CanineCLN6in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis

(2010) Martin L. Katz et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund

(2010) Douglas N. Sanders et al.   MOLECULAR GENETICS AND METABOLISM

A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis

(2010) M. Abitbol et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lysosomal Targeting of the CLN7 Membrane Glycoprotein and Transport Via the Plasma Membrane Require a Dileucine Motif

(2010) Pieter Steenhuis et al.   TRAFFIC

Astrocytes: biology and pathology

(2009) Michael V. Sofroniew et al.   ACTA NEUROPATHOLOGICA

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

(2009) Maria Kousi et al.   BRAIN

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis

(2009) Chiara Aiello et al.   HUMAN MUTATION

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

(2009) M. A. Aldahmesh et al.   NEUROGENETICS

Neuronal Ceroid Lipofuscinosis in 3 Australian Shepherd Littermates

(2008) D.P. O'Brien et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis

(2008) E. Stogmann et al.   NEUROGENETICS

Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis

(2007) Martin L. Katz et al.   NEUROBIOLOGY OF DISEASE