Listar Centro de Biología Integrativa (CBI) por autor "Woehlbier, Ute [Univ Mayor, Ctr Integrat Biol, Fac Sci, Santiago, Chile]"
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Endoplasmic reticulum stress leads to accumulation of wild-type SOD1 aggregates associated with sporadic amyotrophic lateral sclerosis
Woehlbier, Ute [Univ Mayor, Ctr Integrat Biol, Fac Sci, Santiago, Chile]; Medinas, Danilo B.; Rozas, Pablo; Martínez Traub, Francisca; Brown, Robert H.; Bosco, Daryl A.; Hetz, Claudio (NATL ACAD SCIENCES, 2018)Abnormal modifications to mutant superoxide dismutase 1 (SOD1) are linked to familial amyotrophic lateral sclerosis (fALS). Misfolding of wild-type SOD1 (SOD1(WT)) is also observed in postmortem tissue of a subset of ... -
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly
Woehlbier, Ute [Univ Mayor, Ctr Integrat Biol, Fac Sci, Santiago, Chile]; Bolukbasi, Esra Yildiz; Mumtaz, Sara; Afzal, Muhammad; Malik, Sajid; Tolun, Aslihan (BMJ PUBLISHING GROUP, 2018)Background Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. ... -
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
Woehlbier, Ute [Univ Mayor, Ctr Integrat Biol, Fac Sci, Santiago, Chile]; Yildirim, Yeserin; Ouriachi, Toufik; Ouahioune, Wahiba; Balkan, Mahmut; Malik, Sajid; Tolun, Aslihan (NATURE PUBLISHING GROUP, 2018)In affected members of a consanguineous family, a syndrome, which is concurrence of set of medical signs, is often observed and commonly assumed to have arisen from pleiotropy, i.e., the phenomenon of a single gene variant ...