Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Autor: Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, Pietro, Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. -S., Vitobello, A., Racine, C., Mancardi, M. M., Kiss, C., Guerin, A., Wu, W., Vila, E. G., Mak, B. C., Martinez-Agosto, J. A., Gorin, M. B., Duz, B., Bayram, Y., Carvalho, C. M. B., Vengoechea, J. E., Chitayat, D., Tan, T. Y., Callewaert, B., Kruse, B., Bird, L. M., Faivre, L., Zollino, Marcella, Biskup, S., Striano, P., Nigro, V., Severino, M., Capra, V., Costain, G., Nagata, K. -I., Brown, G., Butte, M. J., Dell'Angelica, E. C., Dorrani, N., Douine, E. D., Fogel, B. L., Gutierrez, I., Huang, A., Krakow, D., Lee, H., Loo, S. K., Martin, M. G., Mcgee, E., Nelson, S. F., Nieves-Rodriguez, S., Palmer, C. G. S., Papp, J. C., Parker, N. H., Renteria, G., Sinsheimer, J. S., Wan, J., Wang, L. -K., Perry, K. W., Brunetti-Pierri, N., Casari, G., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Peron, A., Pantaleoni, C., Castello, R., D'Arrigo, S.

Publikováno v: Brain : a journal of neurology, vol 145, iss 9
BRAIN

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3083a328f38c58a75d1e27b4ff06949
https://escholarship.org/uc/item/6xw4z6x0

Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data.

Autor: Ruiz-Ceja KA; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei, 34, 80078, Pozzuoli, Italy.; Dipartimento di Scienze e Tecnologie Ambientali, Biologiche e Farmaceutiche, Program in Molecular Life Science, University of Campania 'Luigi Vanvitelli', Via Vivaldi, 43, 81100, Caserta, Italy., Capasso D; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei, 34, 80078, Pozzuoli, Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomic and Experimental Medicine Program, University of Naples 'Federico II', Largo S. Marcellino, 10, 80138, Napoli, Italy., Pinelli M; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei, 34, 80078, Pozzuoli, Italy., Del Prete E; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei, 34, 80078, Pozzuoli, Italy., Carrella D; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei, 34, 80078, Pozzuoli, Italy., di Bernardo D; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei, 34, 80078, Pozzuoli, Italy.; Chemical Engineering, University of Naples 'Federico II', Piazzale Tecchio, 80, 80125, Napoli, Italy., Banfi S; Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei, 34, 80078, Pozzuoli, Italy. banfi@tigem.it.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Via de Crecchio, 7, 80138, Napoli, Italy. banfi@tigem.it.

Publikováno v: BMC genomics [BMC Genomics] 2023 Apr 18; Vol. 24 (1), pp. 206. Date of Electronic Publication: 2023 Apr 18.

Glatiramer Acetate modulates ion channels expression and calcium homeostasis in B cell of patients with relapsing-remitting multiple sclerosis.

Autor: Criscuolo, C., Cianflone, A., Lanzillo, R., Carrella, D., Carissimo, A., Napolitano, F., de Cegli, R., de Candia, P., La Rocca, C., Petrozziello, T., Matarese, G., Boscia, F., Secondo, A., Di Bernardo, D., Brescia Morra, V.

Publikováno v: Scientific Reports; 3/12/2019, Vol. 9 Issue 1, p1-10, 10p

Mitochondria-derived methylmalonic acid aggravates ischemia–reperfusion injury by activating reactive oxygen species-dependent ferroptosis.

Autor: Guo, Junchen^1,2 (AUTHOR), Wang, Shanjie^1,2 (AUTHOR), Wan, Xin³ (AUTHOR), Liu, Xiaoxuan^1,2 (AUTHOR), Wang, Zeng^1,2 (AUTHOR), Liang, Chenchen^1,2 (AUTHOR), Zhang, Zhenming^1,2 (AUTHOR), Wang, Ye^1,2 (AUTHOR), Yan, Miao^1,2 (AUTHOR), Wu, Pengyan^1,2 (AUTHOR), Fang, Shaohong^1,2 (AUTHOR) fangshaohong@hrbmu.edu.cn, Yu, Bo^1,2 (AUTHOR) yubodr@163.com

Publikováno v: Cell Communication & Signaling. 1/18/2024, Vol. 22 Issue 1, p1-20. 20p.

Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.

Autor: Luciani A; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland. alessandro.luciani@uzh.ch., Schumann A; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland.; Division of Metabolism and Children's Research Center, University Children's Hospital, 8032, Zurich, Switzerland., Berquez M; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland., Chen Z; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland., Nieri D; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland., Failli M; Department of Biomedicine, University of Eastern Finland, 70211, Kuopio, Finland., Debaix H; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland., Festa BP; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland., Tokonami N; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland., Raimondi A; San Raffaele Scientific Institute, Experimental Imaging Center, 20132, Milan, Italy., Cremonesi A; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, 8032, Zurich, Switzerland., Carrella D; Telethon Institute of Genetics and Medicine, Pozzuoli, 80078, Naples, Italy., Forny P; Division of Metabolism and Children's Research Center, University Children's Hospital, 8032, Zurich, Switzerland., Kölker S; Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, 69120, Heidelberg, Germany., Camassei FD; Department of Laboratories-Pathology Unit, Bambino Gesù Children's Hospital, 00165, Rome, Italy., Diaz F; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Moraes CT; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Di Bernardo D; Telethon Institute of Genetics and Medicine, Pozzuoli, 80078, Naples, Italy., Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital, 8032, Zurich, Switzerland., Devuyst O; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland. olivier.devuyst@uzh.ch.; Division of Nephrology, Cliniques Universitaires Saint-Luc, 1040, Brussels, Belgium. olivier.devuyst@uzh.ch.

Publikováno v: Nature communications [Nat Commun] 2020 Apr 01; Vol. 11 (1), pp. 1719. Date of Electronic Publication: 2020 Apr 01.