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Literature DB >> 12227465

Sequence analysis of Hungarian LHON patients not carrying the common primary mutations.

J Horvath¹, R Horvath, V Karcagi, S Komoly, D R Johns.

Abstract

We describe sequence analysis of the mitochondrial DNA of five Hungarian patients diagnosed with probable LHON, who do not carry any of the three primary point mutations. We report three novel mutations, one of which might have a pathogenic role.

Entities: CellLine Species

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Year: 2002 PMID： 12227465 DOI： 10.1023/a:1016518811940

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

3 in total

Review 1. Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins.

Authors: I M Fearnley; J E Walker
Journal: Biochim Biophys Acta Date: 1992-12-07

2. Sequence and organization of the human mitochondrial genome.

Authors: S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
Journal: Nature Date: 1981-04-09 Impact factor: 49.962

3. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.

Authors: K Huoponen; T Lamminen; V Juvonen; P Aula; E Nikoskelainen; M L Savontaus
Journal: Hum Genet Date: 1993-10 Impact factor: 4.132

3 in total

5 in total

Review 1. Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Authors: Patrick Yu-Wai-Man; Philip G Griffiths; Patrick F Chinnery
Journal: Prog Retin Eye Res Date: 2010-11-26 Impact factor: 21.198

2. Analysis of the entire mitochondrial genome reveals Leber's hereditary optic neuropathy mitochondrial DNA mutations in an Arab cohort with multiple sclerosis.

Authors: Ghada Al-Kafaji; Maram A Alharbi; Hasan Alkandari; Abdel Halim Salem; Moiz Bakhiet
Journal: Sci Rep Date: 2022-06-30 Impact factor: 4.996

Sequence analysis of Hungarian LHON patients not carrying the common primary mutations.

Review 1. Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins.

2. Sequence and organization of the human mitochondrial genome.

3. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.

Review 1. Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

2. Analysis of the entire mitochondrial genome reveals Leber's hereditary optic neuropathy mitochondrial DNA mutations in an Arab cohort with multiple sclerosis.

3. Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.

4. Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.

5. Human clinical mutations in mitochondrially encoded subunits of Complex I can be successfully modeled in E. coli.