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

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

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

http://www.wikidata.org/entity/Q30425611

about

Using familial information for variant filtering in high-throughput sequencing studies Brain imaging in Kufs disease type B: case reports.A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs).Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations Genetics of the neuronal ceroid lipofuscinoses (Batten disease).Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.Chronic oral administration of minocycline to sheep with ovine CLN6 neuronal ceroid lipofuscinosis maintains pharmacological concentrations in the brain but does not suppress neuroinflammation or disease progression Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway Alu-Derived Alternative Splicing Events Specific to Macaca Lineages in CTSF Gene.Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.Lysosomal storage diseases--the horizon expands.Lysosomal diseases: diagnostic update.The lysosomal protein cathepsin L is a progranulin protease.Inherited diseases caused by mutations in cathepsin protease genes.NCL diseases - clinical perspectives Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.Novel compound heterozygous mutations causing Kufs disease type B.Active Site Mapping of Human Cathepsin F with Dipeptide Nitrile Inhibitors.

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

http://www.wikidata.org/entity/Q30425611

description

2013 nî lūn-bûn

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2013 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2013 թվականի հունվարին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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Cathepsin F mutations cause Ty ...... neuronal ceroid lipofuscinosis

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Cathepsin F mutations cause Ty ...... neuronal ceroid lipofuscinosis

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type

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Cathepsin F mutations cause Ty ...... neuronal ceroid lipofuscinosis

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Cathepsin F mutations cause Ty ...... neuronal ceroid lipofuscinosis

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Cathepsin F mutations cause Ty ...... neuronal ceroid lipofuscinosis

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Cathepsin F mutations cause Ty ...... neuronal ceroid lipofuscinosis

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Human Molecular Genetics

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Cathepsin F mutations cause Ty ...... neuronal ceroid lipofuscinosis

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Amalia C Bruni

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Eva Andermann

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Frederick Andermann

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Giorgio Giaccone

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Hans-Henrik M Dahl

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Harold A Chapman

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Joachim Grötzinger

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John Damiano

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John F Staropoli

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Katherine B Sims

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P2860

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

A map of human genome variation from population-scale sequencing

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

Mapping short DNA sequencing reads and calling variants using mapping quality scores

MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures

The crystal structure of human cathepsin F and its implications for the development of novel immunomodulators

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

A method and server for predicting damaging missense mutations

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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10.1093/HMG/DDS558

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7

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22

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Joachim Grötzinger

Michael Schwake

Jonathan D. Cooper

Laura Canafoglia

Samuel Berkovic

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2013-01-07T00:00:00Z

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234087124

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23297359

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