Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease
about
Genetics of primary ovarian insufficiency: new developments and opportunitiesUnraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.Control of mitochondrial integrity in ageing and diseaseLoss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic featuresCone responses in Usher syndrome types 1 and 2 by microvolt electroretinographyCODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.Perrault syndrome - a rare case report.Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Inhibition of the Mitochondrial Protease ClpP as a Therapeutic Strategy for Human Acute Myeloid Leukemia.Genetics of Hearing Loss: SyndromicMutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.Identification of potential mitochondrial CLPXP protease interactors and substrates suggests its central role in energy metabolism.Spatial and temporal dynamics of the cardiac mitochondrial proteome.Mitochondrial ClpP activity is required for cisplatin resistance in human cells.Recessive mutations of TMC1 associated with moderate to severe hearing loss.Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.Loss of CLPP alleviates mitochondrial cardiomyopathy without affecting the mammalian UPRmt.Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.Next-generation sequencing for mitochondrial disordersSerendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.New roles for mitochondrial proteases in health, ageing and disease.Molecular insights into the aetiology of female reproductive ageing.Mitochondrial cereblon functions as a Lon-type protease.Mitochondrial disease and endocrine dysfunction.Autophagy compensates impaired energy metabolism in CLPXP-deficient Podospora anserina strains and extends healthspan.A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.Mitochondrial Quality Control Proteases in Neuronal Welfare.Unresolved questions regarding human hereditary deafness.An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.Genetics of mitochondrial dysfunction and infertility.CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels.Genetic diagnosis of Mendelian disorders via RNA sequencing.Drosophila protease ClpXP specifically degrades DmLRPPRC1 controlling mitochondrial mRNA and translation.
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Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Perrault syndrome is caused by ...... P-dependent chambered protease
@ast
Perrault syndrome is caused by ...... P-dependent chambered protease
@en
type
label
Perrault syndrome is caused by ...... P-dependent chambered protease
@ast
Perrault syndrome is caused by ...... P-dependent chambered protease
@en
prefLabel
Perrault syndrome is caused by ...... P-dependent chambered protease
@ast
Perrault syndrome is caused by ...... P-dependent chambered protease
@en
P2093
P2860
P50
P1476
Perrault syndrome is caused by ...... P-dependent chambered protease
@en
P2093
Andrew Berry
Atteeq U Rehman
Bushra Rauf
Deirdre Cilliers
Dorothy Trump
Emma M Jenkinson
Helen Kingston
Jill Clayton-Smith
Julian R E Davis
Julie M Schultz
P2860
P304
P356
10.1016/J.AJHG.2013.02.013
P407
P50
P577
2013-03-28T00:00:00Z