Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Larisa Stolnaya"'
Autor:
Dita Musalkova, Jan Lukas, M. Hrebicek, Lenka Dvorakova, Ondrej Luksan, Eva Richtrova, Lenka Mrázová, Larisa Stolnaya, Jakub Minks, Milan Jirsa
Publikováno v:
Gene. 592:36-42
Acetyl-CoA:α-glucosaminide N -acetyltransferase ( N -acetyltransferase) is a lysosomal membrane enzyme that catalyzes a key step in the lysosomal degradation of heparan sulfate. Its deficiency causes Sanfilippo syndrome type IIIC (Mucopolysaccharido
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28e4a56017935ffdf9bb44bb2f19aa97
https://doi.org/10.1016/j.gene.2016.07.051
https://doi.org/10.1016/j.gene.2016.07.051
Autor:
Milos Kubanek, Filip Majer, Tomas Kalina, Lenka Dvorakova, Larisa Stolnaya, Hana Vlaskova, Milan Elleder, L. Krol, Jakub Sikora
Publikováno v:
Gene. 498(2)
Danon disease (DD) is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and variable degrees of intellectual disability. DD develops due to mutations in the gene encoding lysosomal-associated membrane protein 2 (LAMP2).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c01194a784a22af1b9ed55bdacdab18
https://pubmed.ncbi.nlm.nih.gov/22365987
https://pubmed.ncbi.nlm.nih.gov/22365987
Autor:
Ondřej Lukšan, Jitka Eberova, Eva Svobodová, Deborah Elstein, Milan Jirsa, Ari Zimran, Lenka Dvořáková, Martin Hřebíček, Jakub Minks, Lenka Mrázová, Larisa Stolnaya
Publikováno v:
Blood cells, moleculesdiseases. 46(3)
Database searches have shown that a part of glucocerebrosidase ( GBA ) transcripts may originate at an alternative upstream promoter (P2) located 2.6 kb upstream of the known (P1) GBA promoter. The putative alternative transcripts contained one or tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd79cad1572b4cdef224591c18fa2bd
https://pubmed.ncbi.nlm.nih.gov/21256059
https://pubmed.ncbi.nlm.nih.gov/21256059