Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6 - Test2 - elhamkhani - TriplyDB

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

http://www.wikidata.org/entity/Q24626677

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Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis Classification and natural history of the neuronal ceroid lipofuscinoses A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis Neuroimaging of lipid storage disorders.Brain imaging in Kufs disease type B: case reports.Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.Progressive retinal degeneration and glial activation in the CLN6 (nclf) mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementation Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.Genetics of the neuronal ceroid lipofuscinoses (Batten disease).Opening Pandora's jar: a primer on the putative roles of CRMP2 in a panoply of neurodegenerative, sensory and motor neuron, and central disorders.Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation Progressive myoclonic epilepsies: definitive and still undetermined causes.Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Epilepsy in children--when should we think neurometabolic disease?Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature.Genetics of epilepsy and relevance to current practice.CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.Lysosomal storage diseases--the horizon expands.NCL Disorders: Frequent Causes of Childhood Dementia.CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.NCLs and ER: A stressful relationship.Genetic and epigenetic mechanisms of epilepsy: a review.NCL diseases - clinical perspectives Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons.Blood methylomic signatures of presymptomatic dementia in elderly subjects with type 2 diabetes mellitus.Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.

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Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

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2011 nî lūn-bûn

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2011 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2011 թվականի մայիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Kufs disease, the major adult ...... s, caused by mutations in CLN6

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Kufs disease, the major adult ...... s, caused by mutations in CLN6

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Kufs disease, the major adult ...... s, caused by mutations in CLN6

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Kufs disease, the major adult ...... s, caused by mutations in CLN6

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J.AJHG.2011.04.004

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American Journal of Human Genetics

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Kufs disease, the major adult ...... s, caused by mutations in CLN6

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Catherine J Bromhead

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Danya F Vears

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Eva Andermann

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Frederick Andermann

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John Damiano

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Katherine R Smith

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Melanie Bahlo

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Michael Farrell

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Patrick Cossette

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Saul Mullen

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P2860

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2

Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

PLINK: a tool set for whole-genome association and population-based linkage analyses

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

A method and server for predicting damaging missense mutations

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

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

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566-73

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10.1016/J.AJHG.2011.04.004

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5

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88

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Umberto Aguglia

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Samuel Berkovic

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2011-05-13T00:00:00Z

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