Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.

Acyl-CoA Oxidase / genetics Animals Axons / enzymology Drosophila Humans Mice Mutation Nerve Degeneration / enzymology Neuroglia / enzymology Rats
ACOX1 deficiency Drosophila NACA ROS Schwann cells antioxidant NACA axonal dystrophy fatty acid peroxidation very long chain fatty acids wrapping glia

Journal

Neuron
ISSN: 1097-4199
Titre abrégé: Neuron
Pays: United States
ID NLM: 8809320

Informations de publication

Date de publication:
20 05 2020
Historique:
received: 13 08 2019
revised: 03 01 2020
accepted: 13 02 2020
pubmed: 15 3 2020
medline: 22 8 2020
entrez: 15 3 2020
Statut: ppublish

Résumé

ACOX1 (acyl-CoA oxidase 1) encodes the first and rate-limiting enzyme of the very-long-chain fatty acid (VLCFA) β-oxidation pathway in peroxisomes and leads to H

Identifiants

DOI: 10.1016/j.neuron.2020.02.021 PMID: 32169171 PMC: PMC7289150
pubmed: 32169171
pii: S0896-6273(20)30144-6
doi: 10.1016/j.neuron.2020.02.021
pmc: PMC7289150
mid: NIHMS1568698
pii:
doi:

Substances chimiques

Acyl-CoA Oxidase EC 1.3.3.6

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

589-606.e6

Subventions

Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : Intramural NIH HHS
ID : Z01 BC010425
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG007709
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM067858
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103555
Pays : United States
Organisme : CIHR
ID : MFE-164712
Pays : Canada
Organisme : NIH HHS
ID : P40 OD018537
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD083092
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS093793
Pays : United States
Organisme : NIH HHS
ID : R24 OD022005
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

Published by Elsevier Inc.

Déclaration de conflit d'intérêts

Declaration of Interests The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing conducted by Baylor Genetics Laboratories.

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Auteurs

Hyung-Lok Chung (HL)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.

Michael F Wangler (MF)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA.

Paul C Marcogliese (PC)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.

Juyeon Jo (J)

Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.

Thomas A Ravenscroft (TA)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.

Zhongyuan Zuo (Z)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.

Lita Duraine (L)

Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.

Sina Sadeghzadeh (S)

Department of Psychology, Harvard University, Cambridge, MA 02138, USA.

David Li-Kroeger (D)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.

Robert E Schmidt (RE)

Department of Pathology and Immunology, Division of Neuropathology, Washington University School of Medicine, St. Louis, MO 63110, USA.

Alan Pestronk (A)

Department of Pathology and Immunology, Division of Neuropathology, Washington University School of Medicine, St. Louis, MO 63110, USA.

Jill A Rosenfeld (JA)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Lindsay Burrage (L)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Mitchell J Herndon (MJ)

Department of Pathology and Immunology, Division of Neuropathology, Washington University School of Medicine, St. Louis, MO 63110, USA.

Shan Chen (S)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Amelle Shillington (A)

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.

Marissa Vawter-Lee (M)

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

Robert Hopkin (R)

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.

Jackeline Rodriguez-Smith (J)

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

Michael Henrickson (M)

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

Brendan Lee (B)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Ann B Moser (AB)

Division of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.

Richard O Jones (RO)

Division of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.

Paul Watkins (P)

Division of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.

Taekyeong Yoo (T)

Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.

Soe Mar (S)

Department of Neurology, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO 63110, USA.

Murim Choi (M)

Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.

Robert C Bucelli (RC)

Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.

Shinya Yamamoto (S)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.

Hyun Kyoung Lee (HK)

Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.

Carlos E Prada (CE)

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.

Jong-Hee Chae (JH)

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.

Tiphanie P Vogel (TP)

Department of Pediatrics, Section of Rheumatology, Baylor College of Medicine, Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030, USA.

Hugo J Bellen (HJ)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Flavoprotéines › Acyl-CoA oxidase › Loss- or Gain-of-Function Mutations in ACOX1...
questionsmedicales.fr › Eucaryotes › Animaux › Loss- or Gain-of-Function Mutations in ACOX1...
questionsmedicales.fr › Cellules › Neurones › Neurofibres › Axones › Loss- or Gain-of-Function Mutations in ACOX1...
questionsmedicales.fr › Eucaryotes › Animaux › Invertébrés › Arthropodes › Insectes › Pterygota › Neoptera › Holometabola › Diptera › Drosophilidae › Drosophila › Loss- or Gain-of-Function Mutations in ACOX1...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Loss- or Gain-of-Function Mutations in ACOX1...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Loss- or Gain-of-Function Mutations in ACOX1...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Loss- or Gain-of-Function Mutations in ACOX1...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Dégénérescence nerveuse › Loss- or Gain-of-Function Mutations in ACOX1...
questionsmedicales.fr › Cellules › Névroglie › Loss- or Gain-of-Function Mutations in ACOX1...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Rats › Loss- or Gain-of-Function Mutations in ACOX1...