Amyotrophic Lateral Sclerosis / cerebrospinal fluid Dependovirus Fatal Outcome Gene Silencing Genetic Therapy Genetic Vectors Humans Injections, Spinal Male Meningoencephalitis MicroRNAs / therapeutic use Middle Aged Mutation Proof of Concept Study Spinal Cord / chemistry Superoxide Dismutase-1 / analysis Vital Capacity Young Adult

Journal

The New England journal of medicine
ISSN: 1533-4406
Titre abrégé: N Engl J Med
Pays: United States
ID NLM: 0255562

Informations de publication

Date de publication:
09 07 2020
Historique:
entrez: 9 7 2020
pubmed: 9 7 2020
medline: 28 7 2020
Statut: ppublish

Résumé

Two patients with familial amyotrophic lateral sclerosis (ALS) and mutations in the gene encoding superoxide dismutase 1 (

Identifiants

DOI: 10.1056/NEJMoa2005056 PMID: 32640133
pubmed: 32640133
doi: 10.1056/NEJMoa2005056
doi:

Substances chimiques

MicroRNAs 0
SOD1 protein, human 0
Superoxide Dismutase-1 EC 1.15.1.1

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

151-158

Subventions

Organisme : NIA NIH HHS
ID : P30 AG062421
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS088698
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS111990
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2020 Massachusetts Medical Society.

Auteurs

Christian Mueller (C)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

James D Berry (JD)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Diane M McKenna-Yasek (DM)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Gwladys Gernoux (G)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Margaret A Owegi (MA)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Lindsay M Pothier (LM)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Catherine L Douthwright (CL)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Dario Gelevski (D)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Sarah D Luppino (SD)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Meghan Blackwood (M)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.
ORCID: 0000-0002-3051-6548

Nicholas S Wightman (NS)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Derek H Oakley (DH)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Matthew P Frosch (MP)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Terrence R Flotte (TR)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Merit E Cudkowicz (ME)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

Robert H Brown (RH)

From the Horae Gene Therapy Center, Department of Pediatrics, University of Massachusetts Medical School (UMMS) (C.M., G.G., M.B., T.R.F.), and the Department of Neurology, UMMS and UMass Memorial Medical Center (D.M.M.-Y., M.A.O., C.L.D., N.S.W., R.H.B.), Worcester, and the Healey Center for ALS, Department of Neurology (J.D.B., L.M.P., D.G., S.D.L., M.P.F., M.E.C.), and the C.S. Kubik Laboratory for Neuropathology (D.H.O., M.P.F.), Massachusetts General Hospital and Harvard Medical School, Boston.

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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 ›
questionsmedicales.fr › Virus › Virus à ADN › Parvoviridae › Parvovirinae › Dependovirus ›
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Registre civil › Mortalité › Issue fatale ›
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Épigenèse génétique › Extinction de l'expression des gènes ›
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Génie génétique › Thérapie génétique ›
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Vecteurs génétiques ›
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains ›
questionsmedicales.fr › Thérapeutique › Traitement médicamenteux › Voies d'administration de substances chimiques et des médicaments › Injections › Injections rachidiennes ›
questionsmedicales.fr › Maladies du système nerveux › Méningite › Méningoencéphalite ›
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN non traduit › Petit ARN non traduit › microARN ›
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen ›
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation ›
questionsmedicales.fr › Disciplines des sciences naturelles › Science › Recherche › Étude de validation de principe ›
questionsmedicales.fr › Système nerveux › Système nerveux central › Moelle spinale ›
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Superoxide dismutase › Superoxide dismutase-1 ›
questionsmedicales.fr › Phénomènes physiologiques respiratoires et circulatoires › Phénomènes physiologiques respiratoires › Capacité pulmonaire totale › Capacité vitale ›
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte ›