Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Sandra Markmann"'
Autor:
Anna Scotto Rosato, Einar K Krogsaeter, Dawid Jaślan, Carla Abrahamian, Sandro Montefusco, Chiara Soldati, Barbara Spix, Maria Teresa Pizzo, Giuseppina Grieco, Julia Böck, Amanda Wyatt, Daniela Wünkhaus, Marcel Passon, Marc Stieglitz, Marco Keller, Guido Hermey, Sandra Markmann, Doris Gruber‐Schoffnegger, Susan Cotman, Ludger Johannes, Dennis Crusius, Ulrich Boehm, Christian Wahl‐Schott, Martin Biel, Franz Bracher, Elvira De Leonibus, Elena Polishchuk, Diego L Medina, Dominik Paquet, Christian Grimm
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 9, Pp 1-17 (2022)
Abstract Lysosomes are cell organelles that degrade macromolecules to recycle their components. If lysosomal degradative function is impaired, e.g., due to mutations in lysosomal enzymes or membrane proteins, lysosomal storage diseases (LSDs) can dev
Externí odkaz:
https://doaj.org/article/81fb1739060044f693962704d333fab5
Publikováno v:
Journal of Lipid Research, Vol 56, Iss 8, Pp 1625-1632 (2015)
Site-1 protease (S1P) cleaves membrane-bound lipogenic sterol regulatory element-binding proteins (SREBPs) and the α/β-subunit precursor protein of the N-acetylglucosamine-1-phosphotransferase forming mannose 6-phosphate (M6P) targeting markers on
Externí odkaz:
https://doaj.org/article/563451f890f546b9a7c56339f71ab8ef
Autor:
Anna Scotto Rosato, Einar K Krogsaeter, Dawid Jaślan, Carla Abrahamian, Sandro Montefusco, Chiara Soldati, Barbara Spix, Maria Teresa Pizzo, Giuseppina Grieco, Julia Böck, Amanda Wyatt, Daniela Wünkhaus, Marcel Passon, Marc Stieglitz, Marco Keller, Guido Hermey, Sandra Markmann, Doris Gruber‐Schoffnegger, Susan Cotman, Ludger Johannes, Dennis Crusius, Ulrich Boehm, Christian Wahl‐Schott, Martin Biel, Franz Bracher, Elvira De Leonibus, Elena Polishchuk, Diego L Medina, Dominik Paquet, Christian Grimm
Publikováno v:
EMBO Molecular Medicine. 14
Lysosomes are cell organelles that degrade macromolecules to recycle their components. If lysosomal degradative function is impaired, e.g., due to mutations in lysosomal enzymes or membrane proteins, lysosomal storage diseases (LSDs) can develop. LSD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0beaf2f72a21d6c00110b832eac5e3f
https://doi.org/10.15252/emmm.202115377
https://doi.org/10.15252/emmm.202115377
Autor:
Philip L. Leopold, Odelya E. Pagovich, Ronald G. Crystal, Jasmine Reid, Clarisse Jose, Sandra Markmann, Bishnu P. De, Dolan Sondhi, Jonathan B. Rosenberg, Stephen M. Kaminsky
Publikováno v:
Human gene therapy. 29(4)
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder occurring in 1:10,000 to 1:20,000 live births. In >95% of the cases, CAH results from mutations in the CYP21A2 gene, encoding the adrenal steroid enzyme 21-hydroxylase (21OH). Ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012d09fd98c5ec4cd112dccb25d8059d
https://pubmed.ncbi.nlm.nih.gov/29316814
https://pubmed.ncbi.nlm.nih.gov/29316814
Autor:
Judith Blanz, Michael Schwake, Thomas Braulke, Paul Saftig, Friederike Zunke, Sandra Markmann, Markus Damme
Publikováno v:
Traffic. 16:1127-1136
The lysosomal integral membrane protein type 2 (LIMP-2/SCARB2) has been described as a mannose 6-phosphate (M6P)-independent trafficking receptor for β-glucocerebrosidase (GC). Recently, a putative M6P residue in a crystal structure of a recombinant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c5a3e09a1360fe34eca9db6af97e924
https://doi.org/10.1111/tra.12313
https://doi.org/10.1111/tra.12313
Publikováno v:
Journal of Lipid Research, Vol 56, Iss 8, Pp 1625-1632 (2015)
Site-1 protease (S1P) cleaves membrane-bound lipogenic sterol regulatory element-binding proteins (SREBPs) and the α/β-subunit precursor protein of the N-acetylglucosamine-1-phosphotransferase forming mannose 6-phosphate (M6P) targeting markers on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f877863282500868a880da887eac36f
http://www.sciencedirect.com/science/article/pii/S0022227520355395
http://www.sciencedirect.com/science/article/pii/S0022227520355395
Autor:
Katrin Kollmann, Joerg Heeren, Nahal Brocke-Ahmadinejad, Thomas E. Willnow, Thomas Braulke, Michaela Schweizer, Volkmar Gieselmann, Sandra Markmann, Kerstin Cornils, Melanie Thelen
Publikováno v:
Traffic. 16:743-759
Most lysosomal enzymes require mannose 6-phosphate (M6P) residues for efficient receptor-mediated lysosomal targeting. Although the lack of M6P residues results in missorting and hypersecretion, selected lysosomal enzymes reach normal levels in lysos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::168e66d6f8545a89983277a8a74512a3
https://doi.org/10.1111/tra.12284
https://doi.org/10.1111/tra.12284
Autor:
Sandra Markmann, Bishnu P. De, Jasmine J. Christie-Reid, Ronald G. Crystal, Jonathan B. Rosenberg, Dolan Sondhi, Stephen M. Kaminsky
Publikováno v:
Experimental neurology. 306
Niemann-Pick type C2 (NPC2) disease is a rare, neurodegenerative disorder caused by mutations in the NPC2 gene, leading to lysosomal accumulation of unesterified cholesterol and other lipids. It is characterized by hepatosplenomegaly, liver dysfuncti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::452dbd062626fdbc8f48b62c04c52de2
https://pubmed.ncbi.nlm.nih.gov/29655638
https://pubmed.ncbi.nlm.nih.gov/29655638
Autor:
Svenja Krambeck, Mina Mirzaian, Sandra Markmann, Chris Hughes, Johannes M. F. G. Aerts, Markus Damme, Paul Saftig, Thomas Braulke, Michaela Schweizer, Johannes P. C. Vissers
Publikováno v:
MOLECULAR & CELLULAR PROTEOMICS, 16(3), 438-450
The efficient receptor-mediated targeting of soluble lysosomal proteins to lysosomes requires the modification with mannose 6-phosphate (M6P) residues. Although the absence of M6P results in misrouting and hypersecretion of lysosomal enzymes in many
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43013164e592ee57c93cf1db89af7484
https://hdl.handle.net/1887/59060
https://hdl.handle.net/1887/59060
Publikováno v:
Ultrastructural Pathology. 37:366-372
The GlcNAc-1-phosphotransferase catalyzes the first step in the formation of mannose 6-phosphate (M6P) residues on lysosomal acid hydrolases that is essential for the efficient transport of newly synthesized lysosomal enzymes to lysosomes and the mai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c10502ac61776810f3923d91c91fd9a
https://doi.org/10.3109/01913123.2013.810687
https://doi.org/10.3109/01913123.2013.810687