The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures
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Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson diseaseLRRK2 at the interface of autophagosomes, endosomes and lysosomesIdentification of TMEM230 mutations in familial Parkinson's diseaseParkinson's disease genes VPS35 and EIF4G1 interact genetically and converge on α-synucleinSac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway.Synaptojanin cooperates in vivo with endophilin through an unexpected mechanism.Caenorhabditis elegans: a model to investigate oxidative stress and metal dyshomeostasis in Parkinson's diseaseVPS35, the Retromer Complex and Parkinson's Disease.Synucleins regulate the kinetics of synaptic vesicle endocytosis.Activity-dependent facilitation of Synaptojanin and synaptic vesicle recycling by the Minibrain kinaseDNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.The genetic background of Parkinson's disease: current progress and future prospects.Upregulation of Parkin in endophilin mutant mice.LRRK2 localizes to endosomes and interacts with clathrin-light chains to limit Rac1 activation.Synaptojanin 1 is required for endolysosomal trafficking of synaptic proteins in cone photoreceptor inner segments.The structure of phosphoinositide phosphatases: Insights into substrate specificity and catalysis.α-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2.The complex I subunit NDUFA10 selectively rescues Drosophila pink1 mutants through a mechanism independent of mitophagy.GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.Arf6 and the 5'phosphatase of Synaptojanin 1 regulate autophagy in cone photoreceptorsPhosphorylation of Synaptojanin Differentially Regulates Endocytosis of Functionally Distinct Synaptic Vesicle PoolsSynaptic vesicle glycoprotein 2C (SV2C) modulates dopamine release and is disrupted in Parkinson disease.Inositol lipid phosphatases in membrane trafficking and human disease.Genetics and genomics of Parkinson's disease.Impaired intracellular trafficking defines early Parkinson's diseaseSynaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.Therapeutic strategies in Parkinson's disease: what we have learned from animal models.LRRK2 Pathways Leading to Neurodegeneration.Phosphatidylinositolphosphate phosphatase activities and cancer.Review: Parkinson's disease: from synaptic loss to connectome dysfunction.Endocytic membrane trafficking and neurodegenerative disease.Genetics of movement disorders in the next-generation sequencing era.The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Endolysosomal dysfunction in Parkinson's disease: Recent developments and future challenges.Membrane transporters as mediators of synaptic dopamine dynamics: implications for disease.In Situ Peroxidase Labeling and Mass-Spectrometry Connects Alpha-Synuclein Directly to Endocytic Trafficking and mRNA Metabolism in Neurons.Defects in trafficking bridge Parkinson's disease pathology and genetics.Synaptic Vesicle-Recycling Machinery Components as Potential Therapeutic Targets.
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The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 19 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The Sac1 domain of SYNJ1 ident ...... nism with generalized seizures
@en
The Sac1 domain of SYNJ1 ident ...... ism with generalized seizures.
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type
label
The Sac1 domain of SYNJ1 ident ...... nism with generalized seizures
@en
The Sac1 domain of SYNJ1 ident ...... ism with generalized seizures.
@nl
prefLabel
The Sac1 domain of SYNJ1 ident ...... nism with generalized seizures
@en
The Sac1 domain of SYNJ1 ident ...... ism with generalized seizures.
@nl
P2093
P2860
P50
P356
P1433
P1476
The Sac1 domain of SYNJ1 ident ...... nism with generalized seizures
@en
P2093
Catharine E Krebs
Gholam Ali Shahidi
Gilbert Di Paolo
Hossein Darvish
James C Powell
Ruth H Walker
Siamak Karkheiran
Vladimir Makarov
Zhenyu Yue
P2860
P304
P356
10.1002/HUMU.22372
P577
2013-07-19T00:00:00Z