Zobrazeno 1 - 10 of 14 pro vyhledávání: '"Martin Hrebicek"'
1
Akademický článek
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
Autor: Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or the NPC2 gene. NPC1 is a multipass-transmembrane protein essential for egress of cholesterol from late endosomes/lysosomes. To
Externí odkaz: https://doaj.org/article/031fa5ce876346a8afddbb9efd991352
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2
Akademický článek
Consensus clinical management guidelines for Niemann-Pick disease type C
Autor: Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)
Publikováno v: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)
Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting i
Externí odkaz: https://doaj.org/article/133c728d8bde41bfb85dc58ba966d00c
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3
Corrigendum
Autor: Marketa Tesarova, Martin Hrebicek, Fiona Wilkinson, Brian Bigger, Helena Hůlková, Jerome AUSSEIL, Alex Langford-Smith
Publikováno v: Brain. 138:e366-e366
Severe progressive neurological paediatric disease mucopolysaccharidosis III type C is caused by mutations in the HGSNAT gene leading to deficiency of acetyl-CoA: α-glucosaminide N-acetyltransferase involved in the lysosomal catabolism of heparan su
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::601667cc369025b8716ae7195c86ae05
https://doi.org/10.1093/brain/awv035
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Plný text Recenzováno Digitální knihovna AV ČR
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