Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
about
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsHypomyelinating leukodystrophies: translational research progress and prospectsDisease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin ComplexDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyMyelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorderThe expression and release of Hsp60 in 6-OHDA induced in vivo and in vitro models of Parkinson's diseaseHistorical perspective on mitochondrial medicineControl of mitochondrial integrity in ageing and diseaseAnalysis 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 paraplegiaDescribing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomes.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 mutationPelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.Mutations in cardiovascular connexin genes.CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaInactivation 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.A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletionsMutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.Crystal structure of the human mitochondrial chaperonin symmetrical football complex.Functional Subunits of Eukaryotic Chaperonin CCT/TRiC in Protein Folding.High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher diseaseThe TREM2-DAP12 signaling pathway in Nasu-Hakola disease: a molecular genetics perspective.Characterization and function analysis of Hsp60 and Hsp10 under different acute stresses in black tiger shrimp, Penaeus monodonGenome-Wide Association Studies Suggest Limited Immune Gene Enrichment in Schizophrenia Compared to 5 Autoimmune Diseases.Leptin regulation of Hsp60 impacts hypothalamic insulin signalingThe pathological role of advanced glycation end products-downregulated heat shock protein 60 in islet β-cell hypertrophy and dysfunctionEffects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.The role of molecular chaperones in human misfolding diseases.Proteomic Profiling of Neuroblastoma Cells Adhesion on Hyaluronic Acid-Based Surface for Neural Tissue Engineering.Mitochondrial protein quality control in health and disease.Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation.Mitochondrial quality control: a matter of life and death for neurons.Chaperonin 60: a paradoxical, evolutionarily conserved protein family with multiple moonlighting functions.Hsp60 chaperonopathies and chaperonotherapy: targets and agents.Barcoding heat shock proteins to human diseases: looking beyond the heat shock responseProtecting the mitochondrial powerhouse.Molecular chaperones and neuronal proteostasis.Zebrafish as a Model for the Study of Chaperonopathies.The human mitochondrial Hsp60 in the APO conformation forms a stable tetradecameric complex.
P2860
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P2860
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Mitochondrial hsp60 chaperonop ...... yelination and leukodystrophy.
@ast
Mitochondrial hsp60 chaperonop ...... yelination and leukodystrophy.
@en
type
label
Mitochondrial hsp60 chaperonop ...... yelination and leukodystrophy.
@ast
Mitochondrial hsp60 chaperonop ...... yelination and leukodystrophy.
@en
prefLabel
Mitochondrial hsp60 chaperonop ...... yelination and leukodystrophy.
@ast
Mitochondrial hsp60 chaperonop ...... yelination and leukodystrophy.
@en
P2093
P2860
P1476
Mitochondrial hsp60 chaperonop ...... yelination and leukodystrophy.
@en
P2093
Alexandra Nemirovski
Anthony Luder
Bayan Heno
Costa Georgopoulos
Daniella Magen
Debbie Ang
Dorit Goldsher
Eli Shahar
Hanna Mandel
Karl Skorecki
P2860
P356
10.1016/J.AJHG.2008.05.016
P407
P50
P577
2008-06-19T00:00:00Z