Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease (Q35689426)

9 August 2017

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title

Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease (English)

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9 August 2017

mitochondrial disease

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James E Sylvester

1

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9 August 2017

Nathan Fischel-Ghodsian

series ordinal

2

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9 August 2017

Edward B Mougey

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3

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9 August 2017

Thomas W O'Brien

series ordinal

4

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9 August 2017

language of work or name

English

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publication date

1 March 2004

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9 August 2017

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9 August 2017

6

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9 August 2017

73-80

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9 August 2017

2

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https://scigraph.springernature.com/pub.10.1097/01.gim.0000117333.21213.17

9 August 2017

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21 January 2018

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The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders

21 January 2018

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Characterization of the human heart mitochondrial proteome

21 January 2018

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Progress in the definition of a reference human mitochondrial proteome

21 January 2018

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A complete map of the human ribosomal protein genes: assignment of 80 genes to the cytogenetic map and implications for human disorders

21 January 2018

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Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease

21 January 2018

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Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

21 January 2018

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21 January 2018

Mitochondrial deafness

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Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation

21 January 2018

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Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

21 January 2018

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Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications

21 January 2018

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Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk?

21 January 2018

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Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice.

21 January 2018

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Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase

21 January 2018

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

21 January 2018

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Localization of the Wilson's disease protein product to mitochondria

21 January 2018

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

21 January 2018

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Nuclear-recessive mutations of factors involved in mitochondrial translation are responsible for age-related respiration deficiency of human skin fibroblasts

21 January 2018

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MTG1 codes for a conserved protein required for mitochondrial translation

21 January 2018

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Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort.

21 January 2018

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Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

21 January 2018

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Identification of proteins of the 40 S ribosomal subunit involved in interaction with initiation factor eIF-2 in the quaternary initiation complex by means of monospecific antibodies

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

21 January 2018

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Evolution of proteins in mammalian cytoplasmic and mitochondrial ribosomes

21 January 2018

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Heart-specific splice-variant of a human mitochondrial ribosomal protein (mRNA processing; tissue specific splicing)

21 January 2018

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Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24.

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Deletion of chromosome 13 in Moebius syndrome

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Mapping a cardiomyopathy locus to chromosome 3p22-p25.

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

A mitochondrial DNA clone is associated with increased risk for Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: Potential role of PGC1 and NRF1

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Nutritional and exercise-based therapies in the treatment of mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Nutritional cofactor treatment in mitochondrial disorders

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Ribosomal Protein S19 Gene Mutations in Patients with Diamond-Blackfan Anemia and Identification of Ribosomal Protein S19 Pseudogenes

21 January 2018

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https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Superoxide dismutases of muscle in mitochondrial encephalomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologi

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Diamond-Blackfan anaemia in the Italian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Diamond-Blackfan anemia. Natural history and sequelae of treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

21 January 2018

Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000117333.21213.17

10.1097/01.GIM.0000117333.21213.17

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

9 August 2017

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1 reference