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Article

RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.

Journal of human genetics - 1 Nov 2021

Samra Nadra, Toubiana Shir, Yttervik Hilde, Tzur-Gilat Aya, Morani Ilham, Itzkovich Chen, Giladi Liran, Abu Jabal Kamal, Cao John Z, Godley Lucy A, Mory Adi, Baris Feldman Hagit, Tveten Kristian, Selig Sara, Weiss Karin

Abstract excerpt

RBL2/p130, a member of the retinoblastoma family of proteins, is a key regulator of cell division and propagates irreversible senescence. RBL2/p130 is also involved in neuronal differentiation and survival, and eliminating Rbl2 in certain mouse strains leads to embryonic lethality accompanied by an abnormal central nervous system (CNS) phenotype. Conflicting reports exist regarding a role of RBL2/p130 in...

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Identifiers

PMID: 33980986
DOI: 10.1038/s10038-021-00931-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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