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Page 1
Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.
Calcagni' A, Staiano L, Zampelli N, Minopoli N, Herz NJ, Di Tullio G, Huynh T, Monfregola J, Esposito A, Cirillo C, Bajic A, Zahabiyon M, Curnock R, Polishchuk E, Parkitny L, Medina DL, Pastore N, Cullen PJ, Parenti G, De Matteis MA, Grumati P, Ballabio A. Calcagni' A, et al. Among authors: parkitny l. Nat Commun. 2023 Jul 3;14(1):3911. doi: 10.1038/s41467-023-39643-7. Nat Commun. 2023. PMID: 37400440 Free PMC article.
MeCP2 Interacts with the Super Elongation Complex to Regulate Transcription.
Sonn JY, Kim W, Iwanaszko M, Aoi Y, Li Y, Parkitny L, Brissette JL, Weiner L, Al-Ramahi I, Botas J, Shilatifard A, Zoghbi HY. Sonn JY, et al. Among authors: parkitny l. bioRxiv [Preprint]. 2024 Jul 1:2024.06.30.601446. doi: 10.1101/2024.06.30.601446. bioRxiv. 2024. Update in: Sci Adv. 2025 Nov 28;11(48):eadt5937. doi: 10.1126/sciadv.adt5937. PMID: 39005382 Free PMC article. Updated. Preprint.
MeCP2 interacts with the super elongation complex to regulate transcription.
Sonn JY, Kim W, Iwanaszko M, Aoi Y, Li Y, Qi G, Parkitny L, Brissette JL, Weiner L, Botas J, Al-Ramahi I, Shilatifard A, Zoghbi HY. Sonn JY, et al. Among authors: parkitny l. Sci Adv. 2025 Nov 28;11(48):eadt5937. doi: 10.1126/sciadv.adt5937. Epub 2025 Nov 26. Sci Adv. 2025. PMID: 41296873 Free PMC article.
MECP2 Duplication Uncouples Mitochondrial and Purine Metabolism During neuronal maturation.
Cappuccio G, Qi G, Qin X, Khalil SM, Hunyara J, Li Y, Mathews J, Soriano A, Osenberg S, Sing S, Tacorda TC, Parkitny L, Sheppard J, Timpone G, Attanasio S, Bitar S, Anderson AG, Ifa DR, Coquery C, Suter B, Pehlivan D, Chen H, Liu Z, Li F, Zoghbi HY, Jafar-Nejad P, Maletic-Savatic M. Cappuccio G, et al. Among authors: parkitny l. bioRxiv [Preprint]. 2025 Dec 26:2025.12.24.696399. doi: 10.64898/2025.12.24.696399. bioRxiv. 2025. PMID: 41497664 Free PMC article. Preprint.
31 results