Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
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Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsCellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disordersGenetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type CATP13A2 and Alpha-synuclein: a Metal Taste in AutophagyParkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunctionDeregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorderClassification of Involuntary Movements in Dogs: Myoclonus and MyotoniaMutations in the ATP13A2 gene and Parkinsonism: a preliminary review.Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.Nonsense mutation in PRNP associated with clinical Alzheimer's diseaseThe pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis.ATP13A2/PARK9 Deficiency Neither Cause Lysosomal Impairment Nor Alter α-Synuclein Metabolism in SH-SY5Y Cells.Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL).A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.Genetics of the neuronal ceroid lipofuscinoses (Batten disease).Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosisChronic 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 progressionGenetic and phenotypic characterization of complex hereditary spastic paraplegiaNext-generation sequencing in understanding complex neurological diseaseNeuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathwayExcess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective.Dysfunction of the autophagy/lysosomal degradation pathway is a shared feature of the genetic synucleinopathies."Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population.The neuropathology of neurodegeneration with brain iron accumulation.NCL Disorders: Frequent Causes of Childhood Dementia.Genetic convergence of Parkinson's disease and lysosomal storage disorders.Future perspectives: Moving towards NCL treatments.The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.A familial ATP13A2 mutation enhances alpha-synuclein aggregation and promotes cell death.
P2860
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P2860
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
@ast
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
@en
type
label
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
@ast
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
@en
prefLabel
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
@ast
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
@en
P2860
P50
P356
P1476
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
@en
P2093
Rita J Guerreiro
Susanne A Schneider
P2860
P304
P356
10.1093/HMG/DDS089
P407
P577
2012-03-02T00:00:00Z