Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky - Wikidata - thesis-toulmin - TriplyDB

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

http://www.wikidata.org/entity/Q28269924

about

Human Dna2 is a nuclear and mitochondrial DNA maintenance protein ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability Repair of persistent strand breaks in the mitochondrial genome Ataxia.Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.Novel subcellular localization of the DNA helicase Twinkle at the kinetochore complex during mitosis in neuronal-like progenitor cells.Autosomal recessive cerebellar ataxias.The role of mitochondrial DNA mutations in mammalian aging Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk Mitochondrial disorders of the nuclear genome Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.Past, present and future therapeutics for cerebellar ataxias.The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.Genes and genetic testing in hereditary ataxias.Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.Mitochondrial diseases: a nosological update.Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases.Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Systematic review of autosomal recessive ataxias and proposal for a classification.Mitochondrial disease and epilepsy.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Hereditary ataxias: overview.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.The hexameric structure of the human mitochondrial replicative helicase Twinkle.MtDNA-maintenance defects: syndromes and genes.Principal Aspects Regarding the Maintenance of Mammalian Mitochondrial Genome Integrity.Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

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Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

http://www.wikidata.org/entity/Q28269924

description

2005 nî lūn-bûn

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2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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name

Infantile onset spinocerebella ...... al proteins Twinkle and Twinky

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Infantile onset spinocerebella ...... al proteins Twinkle and Twinky

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Infantile onset spinocerebella ...... al proteins Twinkle and Twinky

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Infantile onset spinocerebella ...... al proteins Twinkle and Twinky

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Infantile onset spinocerebella ...... al proteins Twinkle and Twinky

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Infantile onset spinocerebella ...... al proteins Twinkle and Twinky

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Infantile onset spinocerebella ...... al proteins Twinkle and Twinky

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Infantile onset spinocerebella ...... al proteins Twinkle and Twinky

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Infantile onset spinocerebella ...... al proteins Twinkle and Twinky

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P1433

Human Molecular Genetics

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Infantile onset spinocerebella ...... al proteins Twinkle and Twinky

@en

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Anu Suomalainen

http://www.w3.org/2001/XMLSchema#string

Juha Saharinen

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Kaisu Nikali

http://www.w3.org/2001/XMLSchema#string

Mikko Kuokkanen

http://www.w3.org/2001/XMLSchema#string

Tuula Lönnqvist

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P2860

Role of adenine nucleotide translocator 1 in mtDNA maintenance

TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein

Reconstitution of a minimal mtDNA replisome in vitro

Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia

Mitochondrial control of iron homeostasis. A genome wide analysis of gene expression in a yeast frataxin-deficient strain.

Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

Characterization and expression of sema4g, a novel member of the semaphorin gene family.

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2981-90

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scholarly article

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4683533

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10.1093/HMG/DDI328

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20

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14

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Leena Peltonen-Palotie

Johannes N Spelbrink

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2005-10-15T00:00:00Z

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7624765

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16135556

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infantile onset spinocerebellar ataxia