120117 20240319081025.0 doi 10.3390/ijms23179649 sideral 130847 ART-2022-130847 eng Arnedo, María Universidad de Zaragoza (orcid)0000-0001-9962-2157 Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches 2022 Access copy available to the general public Unrestricted The Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopment Disorder (PACS1-NDD) is a rare autosomal dominant disease caused by mutations in the PACS1 gene. To date, only 87 patients have been reported and, surprisingly, most of them carry the same variant (c.607C>T; p.R203W). The most relevant clinical features of the syndrome include neurodevelopment delay, seizures or a recognizable facial phenotype. Moreover, some of these characteristics overlap with other syndromes, such as the PACS2 or Wdr37 syndromes. The encoded protein phosphofurin acid cluster sorting 1 (PACS-1) is able to bind to different client proteins and direct them to their subcellular final locations. Therefore, although its main function is protein trafficking, it could perform other roles related to its client proteins. In patients with PACS1-NDD, a gain-of-function or a dominant negative mechanism for the mutated protein has been suggested. This, together with the fact that most of the patients carry the same genetic variant, makes it a good candidate for novel therapeutic approaches directed to decreasing the toxic effect of the mutated protein. Some of these strategies include the use of antisense oligonucleotides (ASOs) or targeting of its client proteins. info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 5.6 2022 BIOCHEMISTRY & MOLECULAR BIOLOGY 66 / 285 = 0.232 2022 Q1 T1 CHEMISTRY, MULTIDISCIPLINARY 52 / 178 = 0.292 2022 Q2 T1 1.154 2022 Medicine (miscellaneous) 2022 Q1 Physical and Theoretical Chemistry 2022 Q1 Computer Science Applications 2022 Q1 Inorganic Chemistry 2022 Q1 Spectroscopy 2022 Q1 Organic Chemistry 2022 Q1 Molecular Biology 2022 Q2 Catalysis 2022 Q2 7.8 2022 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Ascaso, Ángela Latorre-Pellicer, Ana Universidad de Zaragoza (orcid)0000-0002-4703-6620 Lucia-Campos, Cristina Gil-Salvador, Marta Universidad de Zaragoza (orcid)0000-0001-6858-1575 Ayerza-Casas, Ariadna Universidad de Zaragoza (orcid)0000-0002-0023-8137 Pablo, María Jesús Gómez-Puertas, Paulino Ramos, Feliciano J. Universidad de Zaragoza (orcid)0000-0002-5732-2209 Bueno-Lozano, Gloria Universidad de Zaragoza (orcid)0000-0002-0902-387X Pié, Juan Universidad de Zaragoza (orcid)0000-0003-3203-6254 Puisac, Beatriz Universidad de Zaragoza (orcid)0000-0003-0170-7326 1012 410 Universidad de Zaragoza Dpto. Farmac.Fisiol.y Med.L.F. Área Fisiología 1011 670 Universidad de Zaragoza Dpto. Microb.Ped.Radio.Sal.Pú. Área Pediatría 23, 17 (2022), 9649 Int. j. mol. sci. International Journal of Molecular Sciences 1661-6596 10884846 http://zaguan.unizar.es/record/120117/files/texto_completo.pdf Versión publicada 2884118 http://zaguan.unizar.es/record/120117/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:120117 articulos driver 2024-03-18-16:35:22 ARTICLE