Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
about
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation updateMutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stabilityGenetics of Parkinson's disease - a clinical perspectiveStructural Impact of Three Parkinsonism-Associated Missense Mutations on Human DJ-1 † , ‡Cross Talk between Two Antioxidant Systems, Thioredoxin and DJ-1: Consequences for CancerAge-dependent motor deficits and dopaminergic dysfunction in DJ-1 null miceReduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1Structural effects of Parkinson's disease linked DJ-1 mutations.Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2DJ-1, PINK1, and their effects on mitochondrial pathwaysDJ-1 deficient mice demonstrate similar vulnerability to pathogenic Ala53Thr human alpha-syn toxicity.Engineered disulfide bonds restore chaperone-like function of DJ-1 mutants linked to familial Parkinson's disease.The genetics of Parkinson disease.The role of cysteine oxidation in DJ-1 function and dysfunction.Mutations in DJ-1 are rare in familial Parkinson diseaseDJ1 expression downregulates in neuroblastoma cells (SK-N-MC) chronically exposed to HIV-1 and cocaine.Loss of DJ-1 elicits retinal abnormalities, visual dysfunction, and increased oxidative stress in mice.Recessive Parkinson's disease.Molecular imaging in hereditary forms of parkinsonism.Neuroprotective function of DJ-1 in Parkinson's disease.Genetics of Parkinson disease.Progress in the pathogenesis and genetics of Parkinson's disease.Review: Familial Parkinson's disease--genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease.Molecular pathogenesis of Parkinson disease: insights from genetic studies.Genetic insights into sporadic Parkinson's disease pathogenesis.Positron emission tomography neuroimaging in Parkinson's disease.Synaptic protein alterations in Parkinson's disease.The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.Oxidizable residues mediating protein stability and cytoprotective interaction of DJ-1 with apoptosis signal-regulating kinase 1In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.Parkinson's disease-associated mutations in DJ-1 modulate its dimerization in living cells.Syndromic approach to Parkinson's disease: role of functional imaging.Selective neuroprotective effects of the S18Y polymorphic variant of UCH-L1 in the dopaminergic system.Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease.Expression of DJ-1 in Neurodegenerative Disorders.Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism.PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.Free radicals impair the anti-oxidative stress activity of DJ-1 through the formation of SDS-resistant dimer.Mechanism of BAG1 repair on Parkinson's disease-linked DJ1 mutation.
P2860
Q22252904-FEB14240-08D5-407B-B143-948226417FB7Q24299939-1F910F28-766F-4D55-9CB4-EA74C8D9D192Q27022109-25C52420-CBAA-4136-8771-6449CB25E3D5Q27649496-F800526D-C8BE-486E-857A-E82395E3452FQ28083118-62D09242-4627-4DC5-9A90-B786EA002A42Q28507691-CD879DD8-04A0-40AE-94AA-BDBD508B0E52Q28591830-B73A7FDD-6952-4760-9163-7832416AD47CQ30369057-6028681E-BC53-4894-AE7B-F9F84958B665Q33315729-C45FD345-4B4D-4FA4-AAC6-E30604E30742Q33733264-346FA1FA-4723-4179-AF57-73F44A4DC1FAQ33755817-D6B06D90-DF0B-4822-9BF2-116986E2CBB0Q34078603-513C00A6-ACE9-439D-AC9B-63080A0BB3FFQ34604083-721B0ECC-927E-47BE-BD3A-7ACD3AA42373Q35031181-15457264-276D-444B-8142-0200BDDFA807Q35231079-81B35E7D-B56E-48EE-8B47-59B138C6E6F4Q35895155-F8BC5D30-6BCA-45E6-A803-29AD887F33B5Q36068919-235F136C-B6E8-493D-B7B6-8F62298FB1B0Q36449306-6B2D465A-FD98-4CE3-AE2E-470AAC8EFBA2Q36771898-EBCFBB72-C588-4980-A901-49AE44DAFE3CQ36899553-6D29DEA6-D6B8-44AD-AD5E-41A956584C12Q37037053-37DFFD7B-C617-47D1-90F4-88F620321490Q37143657-E114027B-ED99-4C2E-8272-F1E77B0D2644Q37151410-AB4960E1-5866-4306-A184-CFB69648E222Q37561699-9ACA09D2-CBD7-4D7D-90AB-27743B50734CQ37583402-2FE6C49C-DE2D-488C-B22F-84524C490D55Q37929598-53F81831-365C-4907-BD31-1E925B1B4BE7Q37972089-8C842CE4-C8CC-48D8-9CD0-1B17968D4963Q38769351-F38FD08D-0295-4D04-B812-DAF2CCAA3672Q39871794-996326B4-8668-4CD6-B9FE-A34452F66460Q40088295-56BFE3AE-7961-439B-9A57-F5C62535B05EQ40393851-10694146-81F3-426A-8712-F5A3F105EF88Q41979984-0888E7DC-8A53-4DEF-BBAA-C0D7C6CC1B4CQ44360675-82E928B9-BE77-4917-9710-CFCCCC5573AEQ46310564-E2322887-AD89-4584-A0C6-01B9DAFFACF8Q47393162-373E25D2-956A-459D-8ECA-A6DACDFABC74Q48137994-007E8B64-AEEC-43FC-B4A3-37CF5746D59BQ50279934-B1052560-EE81-4A37-821C-37B5542ED9F7Q51033505-87A63098-8CE7-42AC-9671-E695609A9533Q52625121-121FE8AD-D772-4F13-979F-E7880F2CBE35
P2860
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
@en
type
label
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
@en
prefLabel
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
@en
P2093
P2860
P50
P356
P1433
P1476
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
@en
P2093
Andreas Bauer
Bernd Wollnik
Dirk Woitalla
Eva-Maria Mietz
Karsten M Strauss
Liang Tong
Peter Bauer
Philipp T Meyer
Robert Hering
Slobodanka Petrovic
P2860
P304
P356
10.1002/HUMU.20089
P577
2004-10-01T00:00:00Z