Log in to save to my catalogue

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6112156

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Human ALS/FTD patient iPSC-derived neurons are used to uncover mechanisms by which C9ORF72 mutations cause neurodegeneration.
An intronic GGGGCC repeat expansion in
C9ORF72
is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic mechanism of this repeat remains unclear. Using hu...

Alternative Titles

Full title

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6112156

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6112156

Other Identifiers

ISSN

1078-8956

E-ISSN

1546-170X

DOI

10.1038/nm.4490

How to access this item