Carnicer Cáceres, Clara - Search Results - UAB Digital Repository of Documents

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Articles, 2 records found Research literature, 1 records found

Articles	2 records found

15 p, 2.7 MB

Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology / Navarro, Alba (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández González, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Riera del Brio, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Montpeyó Garcia-Moreno, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Albert-Bayo, Mercé (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lopez-Royo, Tresa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Castillo-Sanchez, Pablo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Carnicer-Cáceres, Clara (Institució Catalana de Recerca i Estudis Avançats) ; Arranz-Amo, Jose Antonio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Castillo-Ribelles, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pradas-Gracia, Eddie (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Casas, Josefina (Institut de Química Avançada de Catalunya) ; Vila Bover, Miquel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martinez-Vicente, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major genetic risk factor for Parkinson's disease (PD). In this study, we generated a set of differentiated and stable human dopaminergic cell lines that express the two most prevalent GBA mutations as well as GBA knockout cell lines as a in vitro disease modeling system to study the relationship between mutant GBA and the abnormal accumulation of α-synuclein. [...]
2022 - DOI (Digital Object Identifier)

10.1038/s41531-022-00397-6
NPJ Parkinson's disease, Vol. 8 (october 2022)

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18 p, 2.3 MB

Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up / Carnicer-Cáceres, Clara (Hospital Universitari Vall d'Hebron) ; Arranz-Amo, Jose Antonio (Hospital Universitari Vall d'Hebron) ; Cea-Arestin, Cristina (Hospital Universitari Vall d'Hebron) ; Camprodon-Gomez, Maria (Hospital Universitari Vall d'Hebron) ; Moreno-Martinez, David (Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London WC1E 6BT, UK) ; Lucas-Del-Pozo, Sara (UCL Institute of Neurology (Regne Unit)) ; Moltó Abad, Marc (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ; Tigri-Santiña, Ariadna (Hospital Universitari Vall d'Hebron) ; Agraz Pamplona, Irene (Hospital Universitari Vall d'Hebron) ; Rodriguez-Palomares, Jose F.. (Hospital Universitari Vall d'Hebron) ; Hernández-Vara, Jorge (Hospital Universitari Vall d'Hebron) ; Armengol-Bellapart, Mar (Hospital Universitari Vall d'Hebron) ; Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ; Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity in the lysosome due to mutations in the GLA gene, resulting in gradual accumulation of globotriaosylceramide and other derivatives in different tissues. [...]
2021 - DOI (Digital Object Identifier)

10.3390/jcm10081664
Journal of clinical medicine, Vol. 10 (april 2021)

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Research literature	1 records found

152 p, 2.1 MB

Utilidad clínica de biomarcadores de severidad y pronóstico de la nefropatía IgA en el adulto / Carnicer-Cáceres, Clara ; Segarra Medrano, Alfons, dir. ; Fonollosa Pla, Vicent, dir. ; Universitat Autònoma de Barcelona. Departament de Medicina
Los niveles urinarios de moléculas relacionadas con la activación del complemento y con el entorno inflamatorio local que inducen lesión renal han sido ampliamente estudiados como potenciales marcadores predictivos de severidad y pronóstico en la nefropatía IgA (NIgA). [...]
Urinary levels of molecules related to the activation of complement and to the local inflammatory environment inducing renal injury have been widely studied as potential predictive markers of disease severity and prognosis in IgA nephropathy (IgAN). [...]
[Barcelona] : Universitat Autònoma de Barcelona, 2017.

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