TFIIH mutations can impact on translational fidelity of the ribosome.

Khalid, Fatima; Phan, Tamara; Qiang, Mingyue; Maity, Pallab; Lasser, Theresa; Wiese, Sebastian; Penzo, Marianna; Alupei, Marius; Orioli, Donata; Scharffetter-Kochanek, Karin; Iben, Sebastian

Khalid, Fatima; Phan, Tamara; Qiang, Mingyue; Maity, Pallab; Lasser, Theresa; Wiese, Sebastian; Penzo, Marianna; Alupei, Marius; Orioli, Donata; Scharffetter-Kochanek, Karin; Iben, Sebastian.

Afiliação

Khalid F; Department of Dermatology and Allergic Diseases, Ulm University Medical Center, 89081 Ulm, Germany.
Phan T; Department of Dermatology and Allergic Diseases, Ulm University Medical Center, 89081 Ulm, Germany.
Qiang M; Department of Dermatology and Allergic Diseases, Ulm University Medical Center, 89081 Ulm, Germany.
Maity P; Department of Dermatology and Allergic Diseases, Ulm University Medical Center, 89081 Ulm, Germany.
Lasser T; Department of Dermatology and Allergic Diseases, Ulm University Medical Center, 89081 Ulm, Germany.
Wiese S; Core Unit of Mass Spectrometry and Proteomics, Ulm University Medical Center, 89081 Ulm, Germany.
Penzo M; Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, 40138 Bologna, Italy.
Alupei M; Department of Dermatology and Allergic Diseases, Ulm University Medical Center, 89081 Ulm, Germany.
Orioli D; Institute of Molecular Genetics, Consiglio Nazionale delle Ricerche, 27100 Pavia, Italy.
Scharffetter-Kochanek K; Department of Dermatology and Allergic Diseases, Ulm University Medical Center, 89081 Ulm, Germany.
Iben S; Department of Dermatology and Allergic Diseases, Ulm University Medical Center, 89081 Ulm, Germany.

Hum Mol Genet ; 32(7): 1102-1113, 2023 03 20.

Article em En | MEDLINE | ID: mdl-36308430

Assuntos

Síndromes de Tricotiodistrofia; Xeroderma Pigmentoso; Humanos; Fator de Transcrição TFIIH/genética; Fator de Transcrição TFIIH/metabolismo; Reparo do DNA/genética; Xeroderma Pigmentoso/genética; Xeroderma Pigmentoso/patologia; Mutação; Síndromes de Tricotiodistrofia/genética; Síndromes de Tricotiodistrofia/patologia; Ribossomos/genética; Ribossomos/metabolismo

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article