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Literature DB >> 16411215

A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome.

Luis A Aguirre, Ignacio del Castillo, Alfons Macaya, Carme Medá, Manuela Villamar, Miguel A Moreno-Pelayo, Felipe Moreno.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2006 PMID： 16411215 DOI： 10.1002/ajmg.a.31079

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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11 in total

1. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

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Journal: Hum Mol Genet Date: 2020-06-03 Impact factor: 6.150

Review 2. Mitochondrial protein import and human health and disease.

Authors: James A MacKenzie; R Mark Payne
Journal: Biochim Biophys Acta Date: 2006-12-09

3. Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.

Authors: José Rafael Blesa; Abelardo Solano; Paz Briones; Jesús Angel Prieto-Ruiz; José Hernández-Yago; Francisco Coria
Journal: Neuromolecular Med Date: 2007-08-03 Impact factor: 3.843

4. Otopathology in Mohr-Tranebjaerg syndrome.

Authors: Fayez Bahmad; Saumil N Merchant; Joseph B Nadol; Lisbth Tranebjaerg
Journal: Laryngoscope Date: 2007-07 Impact factor: 3.325

5. Functional genomic analysis of human mitochondrial RNA processing.

Authors: Ashley R Wolf; Vamsi K Mootha
Journal: Cell Rep Date: 2014-04-18 Impact factor: 9.423

Review 6. The power of yeast to model diseases of the powerhouse of the cell.

Authors: Matthew G Baile; Steven M Claypool
Journal: Front Biosci (Landmark Ed) Date: 2013-01-01

Review 7. Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.

Authors: Jean-Paul Lasserre; Alain Dautant; Raeka S Aiyar; Roza Kucharczyk; Annie Glatigny; Déborah Tribouillard-Tanvier; Joanna Rytka; Marc Blondel; Natalia Skoczen; Pascal Reynier; Laras Pitayu; Agnès Rötig; Agnès Delahodde; Lars M Steinmetz; Geneviève Dujardin; Vincent Procaccio; Jean-Paul di Rago
Journal: Dis Model Mech Date: 2015-06 Impact factor: 5.758