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Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
Sofou K, Meier K, Sanderson LE, Kaminski D, Montoliu-Gaya L, Samuelsson E, Blomqvist M, Agholme L, Gärtner J, Mühlhausen C, Darin N, Barakat TS, Schlotawa L, van Ham T, Asin Cayuela J, Sterky FH. Sofou K, et al. Among authors: sterky fh. EMBO Mol Med. 2021 May 7;13(5):e13376. doi: 10.15252/emmm.202013376. Epub 2021 May 3. EMBO Mol Med. 2021. PMID: 33938619 Free PMC article.
Liprin-α proteins are master regulators of human presynapse assembly.
Marcó de la Cruz B, Campos J, Molinaro A, Xie X, Jin G, Wei Z, Acuna C, Sterky FH. Marcó de la Cruz B, et al. Among authors: sterky fh. Nat Neurosci. 2024 Apr;27(4):629-642. doi: 10.1038/s41593-024-01592-9. Epub 2024 Mar 12. Nat Neurosci. 2024. PMID: 38472649 Free PMC article.
42 results