Enrichment of


Journal

eLife
ISSN: 2050-084X
Titre abrégé: Elife
Pays: England
ID NLM: 101579614

Informations de publication

Date de publication:
19 11 2021
Historique:
received: 02 06 2021
accepted: 18 11 2021
pubmed: 20 11 2021
medline: 22 1 2022
entrez: 19 11 2021
Statut: epublish

Résumé

SARM1, a protein with critical NADase activity, is a central executioner in a conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human

Identifiants

pubmed: 34796871
doi: 10.7554/eLife.70905
pii: 70905
pmc: PMC8735862
doi:
pii:

Substances chimiques

Armadillo Domain Proteins 0
Cytoskeletal Proteins 0
SARM1 protein, human 0
Nicotinamide Mononucleotide 1094-61-7
NAD+ Nucleosidase EC 3.2.2.5

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

Subventions

Organisme : Medical Research Council
ID : MR/L501529/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 220906/Z/20/Z
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : U54 NS065712
Pays : United States
Organisme : National Institutes of Neurological Diseases and Stroke and office of Rare Diseases
ID : U54NS065712
Organisme : Medical Research Council
ID : MR/R024804/1
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : R01 NS072248
Pays : United States
Organisme : NIEHS NIH HHS
ID : K23 ES027221
Pays : United States
Organisme : Wellcome Trust
ID : 216596/Z/19/Z
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : R01 NS105755
Pays : United States
Organisme : Biotechnology and Biological Sciences Research Council
ID : BB/S009582/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N004582/1
Pays : United Kingdom

Informations de copyright

© 2021, Gilley et al.

Déclaration de conflit d'intérêts

JG Part-funded by AstraZeneca during the past 3 years, OJ Currently part-funded by AstraZeneca, MP, ME, AA, MD, Kv, SG, MH, HH, AI, JK, LL, JR, GR, RS, JX, SZ, JC, ZG, MR No competing interests declared, MC Consults for Nura Bio, but no support provided for this work

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Auteurs

Jonathan Gilley (J)

John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.

Oscar Jackson (O)

John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.

Menelaos Pipis (M)

Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, United Kingdom.

Mehrdad A Estiar (MA)

Department of Human Genetics, McGill University, Montreal, Canada.
The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Canada.

Ammar Al-Chalabi (A)

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Department of Neurology, King's College Hospital, King's College London, London, United Kingdom.

Matt C Danzi (MC)

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, United States.

Kristel R van Eijk (KR)

Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.

Stephen A Goutman (SA)

Department of Neurology, University of Michigan, Ann Arbor, United States.

Matthew B Harms (MB)

Institute for Genomic Medicine, Columbia University, New York, United States.

Henry Houlden (H)

Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, United Kingdom.

Alfredo Iacoangeli (A)

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom.
National Institute for Health Research Biomedical Research Centre and Dementia Unit at South London and Maudsley NHS Foundation Trust and King's College London, London, United Kingdom.

Julia Kaye (J)

Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, United States.

Leandro Lima (L)

Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, United States.
Gladstone Institute of Data Science and Biotechnology, Gladstone Institutes, San Francisco, United States.
Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, United Kingdom.

John Ravits (J)

Department of Neurosciences, University of California, San Diego, La Jolla, United States.

Guy A Rouleau (GA)

Department of Human Genetics, McGill University, Montreal, Canada.
The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Canada.
Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.

Rebecca Schüle (R)

Center for Neurology and Hertie Institute für Clinical Brain Research, University of Tübingen, German Center for Neurodegenerative Diseases, Tübingen, Germany.

Jishu Xu (J)

Center for Neurology and Hertie Institute für Clinical Brain Research, University of Tübingen, German Center for Neurodegenerative Diseases, Tübingen, Germany.

Stephan Züchner (S)

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, United States.

Johnathan Cooper-Knock (J)

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, United Kingdom.

Ziv Gan-Or (Z)

Department of Human Genetics, McGill University, Montreal, Canada.
The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Canada.
Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.

Mary M Reilly (MM)

Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, United Kingdom.

Michael P Coleman (MP)

John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.

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Classifications MeSH