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2 results on '"multifunctional enzymes"'

1. [Autosomal recessive cerebellar ataxias with oculomotor apraxia]

Author

I, Le Ber, S, Rivaud-Péchoux, A, Brice, and A, Dürr

Subjects
DNA-Binding Proteins, MRE11 Homologue Protein, Cerebellar Ataxia, DNA Repair, Apraxias, DNA Helicases, Oculomotor Nerve Diseases, Humans, Nuclear Proteins, Genes, Recessive, Multifunctional Enzymes, RNA Helicases, DNA Damage
Abstract

Autosomal recessive cerebellar ataxias (ARCA) comprise a phenotypically and genetically heterogeneous group of diseases. Recently, a subgroup of ARCA associated with oculomotor apraxia has been delineated.The ataxias with oculomotor apraxia (AOA) include four distinct genetic entities at least: ataxia-telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2). The responsible genes, ATM, MRE11, APTX and SETX respectively, are implicated in DNA-break repair mechanisms.We describe the phenotypic and genetic characteristics of these ataxias, based on a review of the literature and a personal study of AOA1 and AOA2 patients.

Published
2006

2. [Autosomal recessive cerebellar ataxias with oculomotor apraxia].

Author

Le Ber I, Rivaud-Péchoux S, Brice A, and Dürr A

Subjects
Apraxias genetics, Cerebellar Ataxia classification, Cerebellar Ataxia genetics, DNA Damage, DNA Helicases, DNA Repair, DNA-Binding Proteins genetics, Genes, Recessive, Humans, MRE11 Homologue Protein, Multifunctional Enzymes, Nuclear Proteins genetics, Oculomotor Nerve Diseases genetics, RNA Helicases genetics, Apraxias complications, Cerebellar Ataxia complications, Oculomotor Nerve Diseases complications
Abstract

Introduction: Autosomal recessive cerebellar ataxias (ARCA) comprise a phenotypically and genetically heterogeneous group of diseases. Recently, a subgroup of ARCA associated with oculomotor apraxia has been delineated., State of the Art: The ataxias with oculomotor apraxia (AOA) include four distinct genetic entities at least: ataxia-telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2). The responsible genes, ATM, MRE11, APTX and SETX respectively, are implicated in DNA-break repair mechanisms., Conclusion: We describe the phenotypic and genetic characteristics of these ataxias, based on a review of the literature and a personal study of AOA1 and AOA2 patients.

Published
2006
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