ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.

Farrawell, Natalie E; Bax, Monique; McAlary, Luke; McKenna, Jessie; Maksour, Simon; Do-Ha, Dzung; Rayner, Stephanie L; Blair, Ian P; Chung, Roger S; Yerbury, Justin J; Ooi, Lezanne; Saunders, Darren N

Farrawell, Natalie E; Bax, Monique; McAlary, Luke; McKenna, Jessie; Maksour, Simon; Do-Ha, Dzung; Rayner, Stephanie L; Blair, Ian P; Chung, Roger S; Yerbury, Justin J; Ooi, Lezanne; Saunders, Darren N.

Afiliação

Farrawell NE; Molecular Horizons and School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, New South Wales 2522, Australia.
Bax M; Illawarra Health and Medical Research Institute, Wollongong, New South Wales 2522, Australia.
McAlary L; Molecular Horizons and School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, New South Wales 2522, Australia.
McKenna J; Illawarra Health and Medical Research Institute, Wollongong, New South Wales 2522, Australia.
Maksour S; Molecular Horizons and School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, New South Wales 2522, Australia.
Do-Ha D; Illawarra Health and Medical Research Institute, Wollongong, New South Wales 2522, Australia.
Rayner SL; School of Medical Sciences, University of New South Wales, Sydney, New South Wales 2052, Australia.
Blair IP; Molecular Horizons and School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, New South Wales 2522, Australia.
Chung RS; Illawarra Health and Medical Research Institute, Wollongong, New South Wales 2522, Australia.
Yerbury JJ; Molecular Horizons and School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, New South Wales 2522, Australia.
Ooi L; Illawarra Health and Medical Research Institute, Wollongong, New South Wales 2522, Australia.
Saunders DN; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney 2109, New South Wales, Australia.

Hum Mol Genet ; 32(14): 2386-2398, 2023 07 04.

Article em En | MEDLINE | ID: mdl-37220877

Assuntos

Esclerose Lateral Amiotrófica; Demência Frontotemporal; Doença de Pick; Humanos; Esclerose Lateral Amiotrófica/metabolismo; Demência Frontotemporal/genética; Demência Frontotemporal/metabolismo; Ciclinas/genética; Neurônios Motores/metabolismo; Ubiquitina/genética; Ubiquitina/metabolismo; Complexo de Endopeptidases do Proteassoma/genética; Ubiquitina-Proteína Ligases/genética; Ubiquitina-Proteína Ligases/metabolismo; Doença de Pick/metabolismo; Homeostase/genética; Mutação

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Pick / Demência Frontotemporal / Esclerose Lateral Amiotrófica Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Austrália

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