Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins
about
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cellsInteractions of the proteins of neuronal ceroid lipofuscinosis: clues to functionExpression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosisBacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseasesA canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.Retinal Degeneration In A Mouse Model Of CLN5 Disease Is Associated With Compromised Autophagy.Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules.Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice.Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathwayUpdate of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Neuronopathic lysosomal storage diseases: clinical and pathologic findings.Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers.The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells.Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses?High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons.Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.
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P2860
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins
description
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2009
@ast
im November 2009 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2009/11/26)
@sk
vědecký článek publikovaný v roce 2009
@cs
wetenschappelijk artikel (gepubliceerd op 2009/11/26)
@nl
наукова стаття, опублікована в листопаді 2009
@uk
مقالة علمية (نشرت في 26-11-2009)
@ar
name
Novel interactions of CLN5 sup ...... Ceroid Lipofuscinosis proteins
@ast
Novel interactions of CLN5 sup ...... Ceroid Lipofuscinosis proteins
@en
Novel interactions of CLN5 sup ...... Ceroid Lipofuscinosis proteins
@nl
type
label
Novel interactions of CLN5 sup ...... Ceroid Lipofuscinosis proteins
@ast
Novel interactions of CLN5 sup ...... Ceroid Lipofuscinosis proteins
@en
Novel interactions of CLN5 sup ...... Ceroid Lipofuscinosis proteins
@nl
prefLabel
Novel interactions of CLN5 sup ...... Ceroid Lipofuscinosis proteins
@ast
Novel interactions of CLN5 sup ...... Ceroid Lipofuscinosis proteins
@en
Novel interactions of CLN5 sup ...... Ceroid Lipofuscinosis proteins
@nl
P2093
P2860
P921
P356
P1433
P1476
Novel interactions of CLN5 sup ...... Ceroid Lipofuscinosis proteins
@en
P2093
Aija Kyttälä
Annina Lyly
Carina von Schantz
Claudia Heine
Mia-Lisa Schmiedt
Tessa Sipilä
P2860
P2888
P356
10.1186/1471-2121-10-83
P50
P577
2009-11-26T00:00:00Z
P5875
P6179
1049799100