TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.

Manuela Lanzafame; Tiziana Nardo; Roberta Ricotti; Chiara Pantaleoni; Stefano D"Arrigo; Franco Stanzial; Francesco Benedicenti; Mary A Thomas; Miria Stefanini; Donata Orioli; Elena Botta

doi:10.1002/humu.24488

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.

Manuela Lanzafame, Tiziana Nardo, Roberta Ricotti, Chiara Pantaleoni, Stefano D"Arrigo, Franco Stanzial, Francesco Benedicenti, Mary A Thomas, Miria Stefanini, Donata Orioli, Elena Botta

Krankenhaus Bozen

Research output: Contribution to journal › Original Article › peer-review

4 Citations (Web of Science)

Original language	English
Pages (from-to)	2222-2233
Journal	HUMAN MUTATION
Volume	43
Issue number	12
DOIs	https://doi.org/10.1002/humu.24488
Publication status	Published - 2022

Keywords

XERODERMA-PIGMENTOSUM
BASAL TRANSCRIPTION
SALT BRIDGES
ITALIAN PATIENTS
EXCISION-REPAIR
MUTATIONS
PROTEIN
INDIVIDUALS
REVEAL
SYSTEM

Access to Document

10.1002/humu.24488

Cite this

Lanzafame, M., Nardo, T., Ricotti, R., Pantaleoni, C., D"Arrigo, S., Stanzial, F., Benedicenti, F., Thomas, M. A., Stefanini, M., Orioli, D., & Botta, E. (2022). TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy. HUMAN MUTATION , 43(12), 2222-2233. https://doi.org/10.1002/humu.24488

Lanzafame, Manuela ; Nardo, Tiziana ; Ricotti, Roberta et al. / TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy. In: HUMAN MUTATION 2022 ; Vol. 43, No. 12. pp. 2222-2233.

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title = "TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.",

keywords = "XERODERMA-PIGMENTOSUM, BASAL TRANSCRIPTION, SALT BRIDGES, ITALIAN PATIENTS, EXCISION-REPAIR, MUTATIONS, PROTEIN, INDIVIDUALS, REVEAL, SYSTEM",

author = "Manuela Lanzafame and Tiziana Nardo and Roberta Ricotti and Chiara Pantaleoni and Stefano D{"}Arrigo and Franco Stanzial and Francesco Benedicenti and Thomas, {Mary A} and Miria Stefanini and Donata Orioli and Elena Botta",

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doi = "10.1002/humu.24488",

language = "English",

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Lanzafame, M, Nardo, T, Ricotti, R, Pantaleoni, C, D"Arrigo, S, Stanzial, F, Benedicenti, F, Thomas, MA, Stefanini, M, Orioli, D & Botta, E 2022, 'TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.', HUMAN MUTATION , vol. 43, no. 12, pp. 2222-2233. https://doi.org/10.1002/humu.24488

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy. / Lanzafame, Manuela; Nardo, Tiziana; Ricotti, Roberta et al.
In: HUMAN MUTATION , Vol. 43, No. 12, 2022, p. 2222-2233.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.

AU - Lanzafame, Manuela

AU - Nardo, Tiziana

AU - Ricotti, Roberta

AU - Pantaleoni, Chiara

AU - D"Arrigo, Stefano

AU - Stanzial, Franco

AU - Benedicenti, Francesco

AU - Thomas, Mary A

AU - Stefanini, Miria

AU - Orioli, Donata

AU - Botta, Elena

N1 - Lehr-KH Bozen

PY - 2022

Y1 - 2022

KW - XERODERMA-PIGMENTOSUM

KW - BASAL TRANSCRIPTION

KW - SALT BRIDGES

KW - ITALIAN PATIENTS

KW - EXCISION-REPAIR

KW - MUTATIONS

KW - PROTEIN

KW - INDIVIDUALS

KW - REVEAL

KW - SYSTEM

U2 - 10.1002/humu.24488

DO - 10.1002/humu.24488

M3 - Original Article

C2 - 36259739

SN - 1059-7794

VL - 43

SP - 2222

EP - 2233

JO - HUMAN MUTATION

JF - HUMAN MUTATION

IS - 12

ER -

Lanzafame M, Nardo T, Ricotti R, Pantaleoni C, D"Arrigo S, Stanzial F et al. TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy. HUMAN MUTATION . 2022;43(12):2222-2233. doi: 10.1002/humu.24488