Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60 - Wikidata - thesis-toulmin - TriplyDB

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

http://www.wikidata.org/entity/Q24563811

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Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31 Cross Talk of Proteostasis and Mitostasis in Cellular Homeodynamics, Ageing, and Disease Mitochondrial Dysfunction in Cancer and Neurodegenerative Diseases: Spotlight on Fatty Acid Oxidation and Lipoperoxidation Products Mitochondrial dysfunction in inflammatory bowel disease Oma1, a novel membrane-bound metallopeptidase in mitochondria with activities overlapping with the m-AAA protease.P. falciparum cpn20 is a bona fide co-chaperonin that can replace GroES in E. coli Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology Aggresome formation and neurodegenerative diseases: therapeutic implications FUS Interacts with HSP60 to Promote Mitochondrial Damage Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene The expression and release of Hsp60 in 6-OHDA induced in vivo and in vitro models of Parkinson's disease Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport Historical perspective on mitochondrial medicine Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.Evolution, immunity and the emergence of brain superautoantigens Control of mitochondrial integrity in ageing and disease Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Analysis of chaperone mRNA expression in the adult mouse brain by meta analysis of the Allen Brain Atlas.Motor protein mutations cause a new form of hereditary spastic paraplegia Describing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomes.Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish Profiling the mitochondrial proteome of Leber's Hereditary Optic Neuropathy (LHON) in Thailand: down-regulation of bioenergetics and mitochondrial protein quality control pathways in fibroblasts with the 11778G>A mutation Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.Biochemical characterization of mutants in chaperonin proteins CCT4 and CCT5 associated with hereditary sensory neuropathy.Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant Behavior The biology of proteostasis in aging and disease.Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice.Identification of elements that dictate the specificity of mitochondrial Hsp60 for its co-chaperonin.

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Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

http://www.wikidata.org/entity/Q24563811

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2002 nî lūn-bûn

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2002 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2002 թվականի մայիսին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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name

Hereditary spastic paraplegia ...... mitochondrial chaperonin Hsp60

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Hereditary spastic paraplegia ...... mitochondrial chaperonin Hsp60

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Hereditary spastic paraplegia ...... mitochondrial chaperonin Hsp60

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type

label

Hereditary spastic paraplegia ...... mitochondrial chaperonin Hsp60

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Hereditary spastic paraplegia ...... mitochondrial chaperonin Hsp60

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Hereditary spastic paraplegia ...... mitochondrial chaperonin Hsp60

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prefLabel

Hereditary spastic paraplegia ...... mitochondrial chaperonin Hsp60

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Hereditary spastic paraplegia ...... mitochondrial chaperonin Hsp60

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Hereditary spastic paraplegia ...... mitochondrial chaperonin Hsp60

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American Journal of Human Genetics

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Hereditary spastic paraplegia ...... mitochondrial chaperonin Hsp60

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Bertrand Fontaine

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Claire-Sophie Davoine

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Costa Georgopoulos

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Debbie Ang

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Jens Jacob Hansen

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Marit Nyholm Nielsen

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Niels Gregersen

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P2860

The importance of a mobile loop in regulating chaperonin/ co-chaperonin interaction: humans versus Escherichia coli

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

The crystal structure of the asymmetric GroEL-GroES-(ADP)7 chaperonin complex

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

AAA proteases: cellular machines for degrading membrane proteins.

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

Molecular basis of inherited spastic paraplegias.

Recent advances in hereditary spastic paraplegia.

Unfolding the role of chaperones and chaperonins in human disease.

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10.1086/339935

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5

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70

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Isabelle Cournu-Rebeix

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2002-05-01T00:00:00Z

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11465971

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