Showing results (41-50 of 65) with videos related to
Sort By:
Pageof 7
Proceedings of the National Academy of Sciences of the United States of America|January 8, 2016
Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1Shushi Nagamori, Pattama Wiriyasermkul, Meritxell Espino Guarch, et al.Human Molecular Genetics|June 1, 2011
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cystsTania López-Hernández, Sònia Sirisi, Xavier Capdevila-Nortes, et al.BMC Pediatrics|August 29, 2013
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndromeAmy Farmer, Ségolène Aymé, Miguel Lopez de Heredia, et al.Neurobiology of Disease|August 5, 2018
GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathyXabier Elorza-Vidal, Sònia Sirisi, Héctor Gaitán-Peñas, et al.Antioxidants & Redox Signaling|March 12, 2026
L-Ergothioneine Attenuates Nephrolithiasis by Modulating Redox Signaling and Mitochondrial Function in Cystine and Calcium Oxalate ModelsClara Mayayo-Vallverdú, Marta Vecino-Pérez, Esther Prat, et al.Human Molecular Genetics|September 2, 2008
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defectsAnna Duarri, Oscar Teijido, Tania López-Hernández, et al.American Journal of Human Genetics|March 23, 2011
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autismTania López-Hernández, Margreet C Ridder, Marisol Montolio, et al.Frontiers in Genetics|July 7, 2023
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disordersEvan M Lee, Megha Verma, Nila Palaniappan, et al.Neuron|March 13, 2012
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunitElena Jeworutzki, Tania López-Hernández, Xavier Capdevila-Nortes, et al.Medrxiv : the Preprint Server for Health Sciences|February 24, 2023
Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related DisordersEvan M Lee, Megha Verma, Nila Palaniappan, et al.Pageof 7