A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms-Reference-Cited by-同舟云学术

A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms

Published:2018-12 Issue: Volume:72 Page:189.e11-189.e17
ISSN:0197-4580
Container-title:Neurobiology of Aging
language:en
Short-container-title:Neurobiology of Aging

Author:

Canosa Antonio,De Marco Giovanni,Lomartire Annarosa,Rinaudo Maria Teresa,Di Cunto Ferdinando,Turco Emilia,Barberis Marco,Brunetti Maura,Casale Federico,Moglia Cristina,Calvo Andrea,Marklund Stefan L.,Andersen Peter M.,Mora Gabriele,Chiò Adriano

Funder

Ministero della Salute

Neurodegenerative Disease Research

Italian Ministry of University and Research

European Community's Health Seventh Framework Program

Publisher

Elsevier BV

Subject

Geriatrics and Gerontology,Developmental Biology,Clinical Neurology,Ageing,General Neuroscience

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5. Distinct conformers of transmissible misfolded SOD1 distinguish human SOD1-FALS from other forms of familial and sporadic ALS;Ayers;Acta Neuropathol. (Berl),2016

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2. Superoxide Dismutase Administration: A Review of Proposed Human Uses;Molecules;2021-03-25

3. Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay;Scientific Reports;2020-11-26