Genetic Dominant Variants in

Adult Age of Onset Aged Family Female Frontotemporal Dementia / diagnosis Gene Expression Genes, Dominant Genes, Recessive Heterozygote Humans Male Middle Aged Mutation Pedigree Protein Folding Spinocerebellar Ataxias / diagnosis Ubiquitin-Protein Ligases
CHIP E3 ubiquitin ligase SCA48 SCAR16 STUB1 spinocerebellar ataxia

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
30 May 2021
Historique:
received: 20 04 2021
revised: 21 05 2021
accepted: 26 05 2021
entrez: 2 6 2021
pubmed: 3 6 2021
medline: 24 6 2021
Statut: epublish

Résumé

Variants in

Identifiants

DOI: 10.3390/ijms22115870 PMID: 34070858 PMC: PMC8199271
pubmed: 34070858
pii: ijms22115870
doi: 10.3390/ijms22115870
pmc: PMC8199271
pii:
doi:

Substances chimiques

STUB1 protein, human EC 2.3.2.27
Ubiquitin-Protein Ligases EC 2.3.2.27

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Helse Vest Regionalt Helseføretak
ID : 912250
Organisme : Helse Vest Regionalt Helseføretak
ID : F-12144
Organisme : Novo Nordisk Fonden
ID : NNF19OC0057445

Références

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Auteurs

Yasaman Pakdaman (Y)

Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.
Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.

Siren Berland (S)

Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.

Helene J Bustad (HJ)

Department of Biomedicine, University of Bergen, 5021 Bergen, Norway.
ORCID: 0000-0002-4746-1563

Sigrid Erdal (S)

Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.

Bryony A Thompson (BA)

Department of Pathology, Royal Melbourne Hospital, Parkville, VIC 3050, Australia.
Department of Clinical Pathology, Melbourne Medical School, University of Melbourne, Parkville, VIC 3010, Australia.

Paul A James (PA)

Genomic Medicine, Royal Melbourne Hospital, Parkville, VIC 3050, Australia.
Department of Medicine, University of Melbourne, Parkville, VIC 3051, Australia.

Kjersti N Power (KN)

Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway.

Ståle Ellingsen (S)

Department of Biological Sciences, University of Bergen, 5006 Bergen, Norway.

Martin Krooni (M)

NKS Olaviken Gerontopsychiatric Hospital, 5306 Askøy, Norway.
Department of Health and Medical Care, Clinic of Psychiatry, Visby Hospital, 621 55 Visby, Sweden.

Line I Berge (LI)

NKS Olaviken Gerontopsychiatric Hospital, 5306 Askøy, Norway.
Centre for Elderly and Nursing Home Medicine, Department of Global Public Health and Primary Care, University of Bergen, 5009 Bergen, Norway.

Adrienne Sexton (A)

Genomic Medicine, Royal Melbourne Hospital, Parkville, VIC 3050, Australia.
Department of Medicine, University of Melbourne, Parkville, VIC 3051, Australia.

Laurence A Bindoff (LA)

Neuro-SysMed, Center of Excellence for Clinical Research in Neurological Diseases, Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway.
Department of Clinical Medicine, University of Bergen, 5021 Bergen, Norway.

Per M Knappskog (PM)

Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.
Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.

Stefan Johansson (S)

Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.
Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.

Ingvild Aukrust (I)

Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.
Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Genetic Dominant Variants in
questionsmedicales.fr › Environnement et santé publique › Santé publique › Facteurs épidémiologiques › Facteurs âges › Âge de début › Genetic Dominant Variants in
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Genetic Dominant Variants in
questionsmedicales.fr › Sciences sociales › Sociologie › Facteurs sociologiques › Famille › Genetic Dominant Variants in
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › Dégénérescence lobaire frontotemporale › Démence frontotemporale › Genetic Dominant Variants in
questionsmedicales.fr › Phénomènes génétiques › Expression des gènes › Genetic Dominant Variants in
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes dominants › Genetic Dominant Variants in
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes récessifs › Genetic Dominant Variants in
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › Genetic Dominant Variants in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic Dominant Variants in
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Genetic Dominant Variants in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Genetic Dominant Variants in
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Genetic Dominant Variants in
questionsmedicales.fr › Phénomènes chimiques › Phénomènes biochimiques › Pliage des protéines › Genetic Dominant Variants in
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Dégénérescences spinocérébelleuses › Ataxies spinocérébelleuses › Genetic Dominant Variants in
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Ligases › Ubiquitin-protein ligase complexes › Ubiquitin-protein ligases › Genetic Dominant Variants in