Variants in

Caenorhabditis elegans disease modelling V-ATPase epileptic encephalopathy lysosomal disease organelle acidification

Journal

Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125

Informations de publication

Date de publication:
2021
Historique:
received: 02 07 2021
revised: 05 09 2021
accepted: 13 09 2021
entrez: 15 12 2021
pubmed: 16 12 2021
medline: 16 12 2021
Statut: epublish

Résumé

The vacuolar H

Identifiants

pubmed: 34909687
doi: 10.1093/braincomms/fcab245
pii: fcab245
pmc: PMC8665645
doi:

Types de publication

Journal Article

Langues

eng

Pagination

fcab245

Subventions

Organisme : NIA NIH HHS
ID : P01 AG049665
Pays : United States
Organisme : NIA NIH HHS
ID : P01 AG054407
Pays : United States

Informations de copyright

© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.

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Auteurs

Laura C Bott (LC)

Department of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University, Evanston, IL 60208, USA.

Mitra Forouhan (M)

Department of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.

Maria Lieto (M)

Department of Physiology, Anatomy and Genetics, Oxford OX1 3QX, UK.
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples 80121, Italy.

Ambre J Sala (AJ)

Department of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University, Evanston, IL 60208, USA.

Ruth Ellerington (R)

Department of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.

Janel O Johnson (JO)

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

Alfina A Speciale (AA)

Department of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.

Chiara Criscuolo (C)

Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples 80121, Italy.

Alessandro Filla (A)

Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples 80121, Italy.

David Chitayat (D)

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario M5G 1X5, Canada.

Ebba Alkhunaizi (E)

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario M5G 1X5, Canada.

Patrick Shannon (P)

Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario M5G 1X5, Canada.

Andrea H Nemeth (AH)

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.

Francesco Angelucci (F)

Department of Life, Health and Environmental Sciences, University of L'Aquila, 67100 Coppito, L'Aquila, Italy.

Wooi Fang Lim (WF)

Department of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.

Pasquale Striano (P)

Institute for Research, Hospitalization and Health Care (IRCCS) "G. Gaslini" Institute, Genova 16147, Italy.

Federico Zara (F)

Institute for Research, Hospitalization and Health Care (IRCCS) "G. Gaslini" Institute, Genova 16147, Italy.

Ingo Helbig (I)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA 19104, USA.

Mikko Muona (M)

Blueprint Genetics, 02150 Espoo, Finland.
Folkhälsan Research Center, Helsinki, Finland.
Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, 00290, Finland.

Carolina Courage (C)

Folkhälsan Research Center, Helsinki, Finland.
Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, 00290, Finland.

Anna-Elina Lehesjoki (AE)

Folkhälsan Research Center, Helsinki, Finland.
Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, 00290, Finland.

Samuel F Berkovic (SF)

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3010, Australia.

Kenneth H Fischbeck (KH)

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, MD 20892, USA.

Francesco Brancati (F)

Department of Life, Health and Environmental Sciences, University of L'Aquila, 67100 Coppito, L'Aquila, Italy.
IRCCS San Raffaele Pisana, 00163 Roma, Italy.

Richard I Morimoto (RI)

Department of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University, Evanston, IL 60208, USA.

Matthew J A Wood (MJA)

Department of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.
Oxford Harrington Rare Disease Centre, University of Oxford, Oxford OX1 3QX, UK.

Carlo Rinaldi (C)

Department of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.

Classifications MeSH