SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.

Amyotrophic Lateral Sclerosis / metabolism Autophagy / physiology DNA Helicases / metabolism Gene Expression Regulation / genetics Humans Motor Neurons / metabolism Multifunctional Enzymes / metabolism RNA Helicases / metabolism
AOA2 DRIP LC3 R loop R-loop SETX autophagy lysosomal degradation senataxin transcription regulation

Journal

Autophagy
ISSN: 1554-8635
Titre abrégé: Autophagy
Pays: United States
ID NLM: 101265188

Informations de publication

Date de publication:
08 2021
Historique:
pubmed: 21 7 2020
medline: 18 1 2022
entrez: 21 7 2020
Statut: ppublish

Résumé

SETX (senataxin) is an RNA/DNA helicase that has been implicated in transcriptional regulation and the DNA damage response through resolution of R-loop structures. Mutations in

Identifiants

DOI: 10.1080/15548627.2020.1796292 PMID: 32686621 PMC: PMC8386630
pubmed: 32686621
doi: 10.1080/15548627.2020.1796292
pmc: PMC8386630
doi:

Substances chimiques

Multifunctional Enzymes 0
SETX protein, human EC 3.6.1.-
DNA Helicases EC 3.6.4.-
RNA Helicases EC 3.6.4.13

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1889-1906

Subventions

Organisme : NIGMS NIH HHS
ID : R35 GM118136
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM129069
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM084089
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM120607
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA010815
Pays : United States
Organisme : NINDS NIH HHS
ID : R21 NS101575
Pays : United States

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Auteurs

Patricia Richard (P)

Department of Biological Sciences, Columbia University, New York, NY, USA.
Stellate Therapeutics, JLABS @ NYC, New York, NY, USA.
ORCID: 0000-0002-9515-4509

Shuang Feng (S)

Yueh-Lin Tsai (YL)

Department of Biological Sciences, Columbia University, New York, NY, USA.

Wencheng Li (W)

Department of Microbiology, Biochemistry and Molecular Genetics, Rutgers New Jersey Medical School, Newark, NJ, USA.

Paola Rinchetti (P)

Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.
ORCID: 0000-0001-8279-3304

Ubayed Muhith (U)

Department of Biological Sciences, Columbia University, New York, NY, USA.

Juan Irizarry-Cole (J)

Department of Biological Sciences, Columbia University, New York, NY, USA.

Katharine Stolz (K)

Department of Biological Sciences, Columbia University, New York, NY, USA.

Lionel A Sanz (LA)

Department of Molecular and Cellular Biology and Genome Center, University of California, Davis, CA, USA.

Stella Hartono (S)

Department of Molecular and Cellular Biology and Genome Center, University of California, Davis, CA, USA.

Mainul Hoque (M)

Department of Microbiology, Biochemistry and Molecular Genetics, Rutgers New Jersey Medical School, Newark, NJ, USA.

Saba Tadesse (S)

Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.

Hervé Seitz (H)

Institut de Génétique Humaine, UMR 9002 CNRS and Université de Montpellier, Montpellier, France.
ORCID: 0000-0001-8172-5393

Francesco Lotti (F)

Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
ORCID: 0000-0002-5104-9088

Michio Hirano (M)

Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.

Frédéric Chédin (F)

Department of Molecular and Cellular Biology and Genome Center, University of California, Davis, CA, USA.
ORCID: 0000-0002-1306-5335

Bin Tian (B)

Department of Microbiology, Biochemistry and Molecular Genetics, Rutgers New Jersey Medical School, Newark, NJ, USA.
Gene Expression and Regulation Program, and Center for Systems and Computational Biology, The Wistar Institute, Philadelphia, PA, USA.
ORCID: 0000-0001-8903-8256

James L Manley (JL)

Department of Biological Sciences, Columbia University, New York, NY, USA.

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Protéinopathies TDP-43 › Sclérose latérale amyotrophique › SETX (senataxin), the helicase mutated in AOA2...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Autophagie › SETX (senataxin), the helicase mutated in AOA2...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Isomerases › Helicase › SETX (senataxin), the helicase mutated in AOA2...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › SETX (senataxin), the helicase mutated in AOA2...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › SETX (senataxin), the helicase mutated in AOA2...
questionsmedicales.fr › Cellules › Neurones › Neurones efférents › Motoneurones › SETX (senataxin), the helicase mutated in AOA2...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Enzymes multifonctionnelles › SETX (senataxin), the helicase mutated in AOA2...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Phosphotransferases › Nucleotidyltransferases › RNA nucleotidyltransferases › RNA helicases › SETX (senataxin), the helicase mutated in AOA2...