FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
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Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson diseaseGenetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation updateThe Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagyHistone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial developmentLinking F-box protein 7 and parkin to neuronal degeneration in Parkinson's disease (PD)Targeting heat shock proteins to modulate α-synuclein toxicityThe genetics and neuropathology of Parkinson's diseaseGenetically engineered mouse models for functional studies of SKP1-CUL1-F-box-protein (SCF) E3 ubiquitin ligasesStructure of the FP domain of Fbxo7 reveals a novel mode of protein-protein interactionThe FP domains of PI31 and Fbxo7 have the same protein fold but very different modes of protein-protein interactionConverging roles of ion channels, calcium, metabolic stress, and activity pattern of Substantia nigra dopaminergic neurons in health and Parkinson's diseaseGenetics in Parkinson disease: Mendelian versus non-Mendelian inheritanceAnti-Oxidants in Parkinson's Disease Therapy: A Critical Point of ViewLoss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15)A Competitive binding mechanism between Skp1 and exportin 1 (CRM1) controls the localization of a subset of F-box proteinsFBXO7 immunoreactivity in α-synuclein-containing inclusions in Parkinson disease and multiple system atrophyF-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagyFBXO7 Y52C polymorphism as a potential protective factor in Parkinson's diseaseMutation in the SYNJ1 gene associated with autosomal recessive, early-onset ParkinsonismFunctional and Morphological Correlates in the Drosophila LRRK2 loss-of-function Model of Parkinson's Disease: Drug Effects of Withania somnifera (Dunal) AdministrationParkinson's Disease and Cognitive ImpairmentRegulation of parkin and PINK1 by neddylation.Familial atypical parkinsonism with rare variant in VPS35 and FBXO7 genes: A case report.A specific subset of E2 ubiquitin-conjugating enzymes regulate Parkin activation and mitophagy differentlyMutations in the ATP13A2 gene and Parkinsonism: a preliminary review.Identification of F-box only protein 7 as a negative regulator of NF-kappaB signalling.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Dopaminergic neuronal loss and dopamine-dependent locomotor defects in Fbxo7-deficient zebrafish.DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.The genetic background of Parkinson's disease: current progress and future prospects.Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variabilityThe genetics of Parkinson disease.A novel X-linked four-repeat tauopathy with Parkinsonism and spasticityThe F-box protein FBXO7 positively regulates bone morphogenetic protein-mediated signaling through Lys-63-specific ubiquitination of neurotrophin receptor-interacting MAGE (NRAGE).Rapid genetic diagnosis in single-gene movement disordersF-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease.Splicing: is there an alternative contribution to Parkinson's disease?Dysregulation of the causative genes for hereditary parkinsonism in the midbrain in Parkinson's disease.The genetics of Parkinson's disease: progress and therapeutic implicationsIncreased Rate of Sporadic and Recurrent Rare Genic Copy Number Variants in Parkinson's Disease Among Ashkenazi Jews
P2860
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P2860
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
@ast
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
@en
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
@nl
type
label
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
@ast
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
@en
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
@nl
prefLabel
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
@ast
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
@en
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
@nl
P2093
P50
P3181
P1433
P1476
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
@en
P2093
A Szczerbinska
B A Oostra
E H Yonova
E J Simons
E de Graaff
G J Breedveld
L Correia Guedes
L O M Dubbel-Hulsman
M C J Dekker
P304
P3181
P356
10.1212/01.WNL.0000338144.10967.2B
P407
P577
2008-11-26T00:00:00Z