000120117 001__ 120117
000120117 005__ 20240319081025.0
000120117 0247_ $$2doi$$a10.3390/ijms23179649
000120117 0248_ $$2sideral$$a130847
000120117 037__ $$aART-2022-130847
000120117 041__ $$aeng
000120117 100__ $$0(orcid)0000-0001-9962-2157$$aArnedo, María$$uUniversidad de Zaragoza
000120117 245__ $$aMolecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches
000120117 260__ $$c2022
000120117 5060_ $$aAccess copy available to the general public$$fUnrestricted
000120117 5203_ $$aThe 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.
000120117 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000120117 590__ $$a5.6$$b2022
000120117 592__ $$a1.154$$b2022
000120117 591__ $$aBIOCHEMISTRY & MOLECULAR BIOLOGY$$b66 / 285 = 0.232$$c2022$$dQ1$$eT1
000120117 593__ $$aMedicine (miscellaneous)$$c2022$$dQ1
000120117 591__ $$aCHEMISTRY, MULTIDISCIPLINARY$$b52 / 178 = 0.292$$c2022$$dQ2$$eT1
000120117 593__ $$aPhysical and Theoretical Chemistry$$c2022$$dQ1
000120117 593__ $$aComputer Science Applications$$c2022$$dQ1
000120117 593__ $$aInorganic Chemistry$$c2022$$dQ1
000120117 593__ $$aSpectroscopy$$c2022$$dQ1
000120117 593__ $$aOrganic Chemistry$$c2022$$dQ1
000120117 593__ $$aMolecular Biology$$c2022$$dQ2
000120117 593__ $$aCatalysis$$c2022$$dQ2
000120117 594__ $$a7.8$$b2022
000120117 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000120117 700__ $$aAscaso, Ángela
000120117 700__ $$0(orcid)0000-0002-4703-6620$$aLatorre-Pellicer, Ana$$uUniversidad de Zaragoza
000120117 700__ $$aLucia-Campos, Cristina
000120117 700__ $$0(orcid)0000-0001-6858-1575$$aGil-Salvador, Marta$$uUniversidad de Zaragoza
000120117 700__ $$0(orcid)0000-0002-0023-8137$$aAyerza-Casas, Ariadna$$uUniversidad de Zaragoza
000120117 700__ $$aPablo, María Jesús
000120117 700__ $$aGómez-Puertas, Paulino
000120117 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, Feliciano J.$$uUniversidad de Zaragoza
000120117 700__ $$0(orcid)0000-0002-0902-387X$$aBueno-Lozano, Gloria$$uUniversidad de Zaragoza
000120117 700__ $$0(orcid)0000-0003-3203-6254$$aPié, Juan$$uUniversidad de Zaragoza
000120117 700__ $$0(orcid)0000-0003-0170-7326$$aPuisac, Beatriz$$uUniversidad de Zaragoza
000120117 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología
000120117 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000120117 773__ $$g23, 17 (2022), 9649$$pInt. j. mol. sci.$$tInternational Journal of Molecular Sciences$$x1661-6596
000120117 8564_ $$s10884846$$uhttps://zaguan.unizar.es/record/120117/files/texto_completo.pdf$$yVersión publicada
000120117 8564_ $$s2884118$$uhttps://zaguan.unizar.es/record/120117/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
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000120117 951__ $$a2024-03-18-16:35:22
000120117 980__ $$aARTICLE