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Article

Signaling defects in iPSC-derived fragile X premutation neurons.

Human molecular genetics - 1 Sept 2012

Liu Jing, Koscielska Katarzyna A, Cao Zhengyu, Hulsizer Susan, Grace Natalie, Mitchell Gaela, Nacey Catherine, Githinji Jackline, McGee Jeannine, Garcia-Arocena Dolores, Hagerman Randi J, Nolta Jan, Pessah Isaac N, Hagerman Paul J

Abstract excerpt

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a leading monogenic neurodegenerative disorder affecting premutation carriers of the fragile X (FMR1) gene. To investigate the underlying cellular neuropathology, we produced induced pluripotent stem cell-derived neurons from isogenic subclon...

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Identifiers

PMID: 22641815
DOI: 10.1093/hmg/dds207
PMCID: PMC3412379

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22641815-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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