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Small heat shock proteins operate as molecular chaperones in the mitochondrial intermembrane space.
Nat Cell Biol. 2023 Mar;25(3):467-480. doi: 10.1038/s41556-022-01074-9. Epub 2023 Jan 23.
Nat Cell Biol. 2023.
PMID: 36690850
Free PMC article.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Meuwissen M, Verstraeten A, Ranza E, Iwaszkiewicz J, Bastiaansen M, Mateiu L, Nemegeer M, Meester JAN, Afenjar A, Amaral M, Ballhausen D, Barnett S, Barth M, Asselbergh B, Spaas K, Heeman B, Bassetti J, Blackburn P, Schaer M, Blanc X, Zoete V, Casas K, Courtin T, Doummar D, Guerry F, Keren B, Pappas J, Rabin R, Begtrup A, Shinawi M, Vulto-van Silfhout AT, Kleefstra T, Wagner M, Ziegler A, Schaefer E, Gerard B, De Bie CI, Holwerda SJB, Abbot MA, Antonarakis SE, Loeys B.
Meuwissen M, et al. Among authors: spaas k.
Genet Med. 2022 Jul;24(7):1583-1591. doi: 10.1016/j.gim.2022.04.003. Epub 2022 May 2.
Genet Med. 2022.
PMID: 35499524
Free article.
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