Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Daesung Shin"'
Autor:
Conlan Kreher, Jacob Favret, Nadav I Weinstock, Malabika Maulik, Xinying Hong, Michael H Gelb, Lawrence Wrabetz, M Laura Feltri, Daesung Shin
Publikováno v:
PLoS Biology, Vol 20, Iss 7, p e3001661 (2022)
Krabbe disease is caused by a deficiency of the lysosomal galactosylceramidase (GALC) enzyme, which results in the accumulation of galactosylceramide (GalCer) and psychosine. In Krabbe disease, the brunt of demyelination and neurodegeneration is beli
Externí odkaz:
https://doaj.org/article/2999db1d8c164061bec0497b5f1faec5
Autor:
Nadav I. Weinstock, Conlan Kreher, Jacob Favret, Duc Nguyen, Ernesto R. Bongarzone, Lawrence Wrabetz, M. Laura Feltri, Daesung Shin
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Krabbe disease is caused by GALC deficiency, leading to accumulation of cytotoxic psychosine, demyelination, and neurodegeneration. Here, the authors develop a Galc flox mouse line to model Krabbe disease and unveil that early postnatal GALC neuronal
Externí odkaz:
https://doaj.org/article/606ef150c65a47159fe6665ba8d08beb
Publikováno v:
Frontiers in Molecular Biosciences, Vol 7 (2020)
There are over 50 lysosomal hydrolase deficiencies, many of which cause neurodegeneration, cognitive decline and death. In recent years, a number of broad innovative therapies have been proposed and investigated for lysosomal storage diseases (LSDs),
Externí odkaz:
https://doaj.org/article/36673e4ff90949ba93b0155904baa975
Publikováno v:
Biomolecules, Vol 11, Iss 3, p 400 (2021)
Lysosomes are cellular organelles that contain various acidic digestive enzymes. Despite their small size, they have multiple functions. Lysosomes remove or recycle unnecessary cell parts. They repair damaged cellular membranes by exocytosis. Lysosom
Externí odkaz:
https://doaj.org/article/9ec115776e404d0ca76860c6d2510ff1
Autor:
Narayan Dhimal, Jacob Favret, Daesung Shin, M. Laura Feltri, Nadav I. Weinstock, Lawrence Wrabetz
Publikováno v:
Glia
Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a lysosomal storage disorder causing extensive demyelination in the central and peripheral nervous systems. GLD is caused by loss-of-function mutations in the lysosomal hydrolase, ga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d17ac83fadf031b3f80f7ee8d8b43fc
https://doi.org/10.1002/glia.24008
https://doi.org/10.1002/glia.24008
Autor:
Conlan Kreher, Jacob Favret, Nadav I. Weinstock, Malabika Maulik, Xinying Hong, Michael H. Gelb, Lawrence Wrabetz, M. Laura Feltri, Daesung Shin
Publikováno v:
PLoS biology. 20(7)
Krabbe disease is caused by a deficiency of the lysosomal galactosylceramidase (GALC) enzyme, which results in the accumulation of galactosylceramide (GalCer) and psychosine. In Krabbe disease, the brunt of demyelination and neurodegeneration is beli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a298731d39737f59f5f71b5a600dd731
https://pubmed.ncbi.nlm.nih.gov/35793314
https://pubmed.ncbi.nlm.nih.gov/35793314
Autor:
Conlan Kreher, Nadav I. Weinstock, Daesung Shin, Lawrence Wrabetz, Ernesto R. Bongarzone, Duc Nguyen, M. Laura Feltri, Jacob Favret
Publikováno v:
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Krabbe disease (KD) is caused by a deficiency of galactosylceramidase (GALC), which induces demyelination and neurodegeneration due to accumulation of cytotoxic psychosine. Hematopoietic stem cell transplantation (HSCT) improves clinical outcomes in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59064d9697e7a3a0f75ec3fac9c9e01d
http://europepmc.org/articles/PMC7584660
http://europepmc.org/articles/PMC7584660
Autor:
Lawrence Wrabetz, Ernesto R. Bongarzone, Nadav I. Weinstock, Yung-Chih Cheng, Daesung Shin, Maria L. Escolar, Eric E Irons, Julia Kofler, Xinying Hong, Narayan Dhimal, Nicholas Silvestri, Duc Nguyen, Chelsey B. Reed, Joseph T.Y. Lau, Michael H. Gelb, Oliver Sampson, M. Laura Feltri
Publikováno v:
Neuron
Summary Many therapies for lysosomal storage disorders rely on cross-correction of lysosomal enzymes. In globoid cell leukodystrophy (GLD), mutations in GALC cause psychosine accumulation, inducing demyelination, a neuroinflammatory “globoid” rea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86b038a1a5d51a14f3ea89b34547a270
https://europepmc.org/articles/PMC7924901/
https://europepmc.org/articles/PMC7924901/
Publikováno v:
Frontiers in Molecular Biosciences
Frontiers in Molecular Biosciences, Vol 7 (2020)
Frontiers in Molecular Biosciences, Vol 7 (2020)
There are over 50 lysosomal hydrolase deficiencies, many of which cause neurodegeneration, cognitive decline and death. In recent years, a number of broad innovative therapies have been proposed and investigated for lysosomal storage diseases (LSDs),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70ce5c84db2d279b0d396f91f3bbf0df
https://doi.org/10.3389/fmolb.2020.00057
https://doi.org/10.3389/fmolb.2020.00057
Autor:
Conlan Kreher, Ernesto R. Bongarzone, Jacob Favret, Lawrence Wrabetz, Daesung Shin, Nadav I. Weinstock, Maria Laura Feltri
Krabbe disease (KD) is caused by a deficiency of galactosylceramidase (GALC), which induces demyelination and neurodegeneration due to accumulation of cytotoxic psychosine. Hematopoietic stem cell transplantation (HSCT) improves clinical outcomes in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e92c2e6596e6fe57a20d5e208ebe763e