Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Silvia Nitschke"'
Autor:
Mitchell A. Sullivan, Silvia Nitschke, Evan P. Skwara, Peixiang Wang, Xiaochu Zhao, Xiao S. Pan, Erin E. Chown, Travis Wang, Ami M. Perri, Jennifer P.Y. Lee, Francisco Vilaplana, Berge A. Minassian, Felix Nitschke
Publikováno v:
Cell Reports, Vol 27, Iss 5, Pp 1334-1344.e6 (2019)
Summary: Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood. Here, in two mouse mode
Externí odkaz:
https://doaj.org/article/93cbd4080dd64d3b94ee2bdd6691b639
Autor:
Silvia Nitschke, Mitchell A Sullivan, Sharmistha Mitra, Charlotte R Marchioni, Jennifer P Y Lee, Brandon H Smith, Saija Ahonen, Jun Wu, Erin E Chown, Peixiang Wang, Sara Petković, Xiaochu Zhao, Laura F DiGiovanni, Ami M Perri, Lori Israelian, Tamar R Grossman, Holly Kordasiewicz, Francisco Vilaplana, Kazuhiro Iwai, Felix Nitschke, Berge A Minassian
Publikováno v:
Brain
Longer glucan chains tend to precipitate. Glycogen, by far the largest mammalian glucan and the largest molecule in the cytosol with up to 55 000 glucoses, does not, due to a highly regularly branched spherical structure that allows it to be perfused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f59293c4929b2bbb5d47f012bf06d7c1
https://doi.org/10.1093/brain/awac017
https://doi.org/10.1093/brain/awac017
Autor:
Dikran R Guisso, Silvia Nitschke, Berge A. Minassian, Jun Wu, Brandy Verhalen, Matthew Dear, Felix Nitschke, Emrah Gumusgoz, Sharmistha Mitra, Sahba Kasiri
Publikováno v:
Neurotherapeutics
Many adult and most childhood neurological diseases have a genetic basis. CRISPR/Cas9 biotechnology holds great promise in neurological therapy, pending the clearance of major delivery, efficiency, and specificity hurdles. We applied CRISPR/Cas9 geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75671ca9d579993e6f911c9c05db849c
https://doi.org/10.1007/s13311-021-01040-7
https://doi.org/10.1007/s13311-021-01040-7
Autor:
Felix Nitschke, Jennifer P.Y. Lee, Xiaochu Zhao, Travis Wang, Peixiang Wang, Ami M. Perri, Mitchell A. Sullivan, Francisco Vilaplana, Evan P. Skwara, Berge A. Minassian, Xiao S. Pan, Silvia Nitschke, Erin E. Chown
Publikováno v:
Cell Reports, Vol 27, Iss 5, Pp 1334-1344.e6 (2019)
Summary: Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood. Here, in two mouse mode
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d069dec9a1178e1484bc1a3ea9975f71
http://www.sciencedirect.com/science/article/pii/S2211124719304826
http://www.sciencedirect.com/science/article/pii/S2211124719304826
Publikováno v:
International Journal of Molecular Sciences, Vol 18, Iss 8, p 1743 (2017)
Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with adolescent onset, resulting in progressive myoclonus epilepsy which is fatal usually within ten years of symptom onset. The disease is caused by loss-of
Externí odkaz:
https://doaj.org/article/527b3db891a141faa67d3a08b7a4372f
Autor:
Silvia Nitschke, Xiaochu Zhao, Berge A. Minassian, Jennifer P.Y. Lee, Brandy Verhalen, Lori Israelian, Peixiang Wang, Ami M. Perri, Felix Nitschke
Publikováno v:
J Neurochem
Mammalian glycogen chain lengths are subject to complex regulation, including by seven proteins (protein phosphatase-1 regulatory subunit 3, PPP1R3A through PPP1R3G) that target protein phosphatase-1 (PP1) to glycogen to activate the glycogen chain-e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c53684e3fc849f5ba018634f2bc91d1
https://pubmed.ncbi.nlm.nih.gov/32892347
https://pubmed.ncbi.nlm.nih.gov/32892347
Sensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid
Publikováno v:
J Biol Chem
The soluble α-polyglucan glycogen is a central metabolite enabling transient glucose storage to suit cellular energy needs. Glycogen storage diseases (GSDs) comprise over 15 entities caused by generalized or tissue-specific defects in enzymes of gly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5d53d94f0a3823eb1fe585caf8bc01a
https://pubmed.ncbi.nlm.nih.gov/32817315
https://pubmed.ncbi.nlm.nih.gov/32817315
Autor:
Vardiella Meiner, Alexander Lossos, David Arkadir, Muneer Abu Snineh, Dolev Rahat, Silvia Nitschke, Ora Schueler-Furman, Yuval Tabach, Israela Lerer, Yair Sadaka, Berge A. Minassian
Publikováno v:
Annals of Clinical and Translational Neurology
Objective To investigate the genetic basis of the recessive form of primary familial brain calcification and study pathways linking a novel gene with known dominant genes that cause the disease. Methods Whole exome sequencing and Sanger‐based segre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ca1ec4c8ab4ed45201ed993eaf2b338
https://doi.org/10.1002/acn3.684
https://doi.org/10.1002/acn3.684
Publikováno v:
Nature Reviews Neurology. 14:606-617
Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy adolescents, and death commonly occurs within 10 years of symptom onset. Lafora disease is caused by loss-of-function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::287267385c115113c1cc475d79fef448
https://doi.org/10.1038/s41582-018-0057-0
https://doi.org/10.1038/s41582-018-0057-0
Publikováno v:
Trends in Plant Science. 22:913-916
Recent work has shown that changing the photoperiod induces stress in Arabidopsis thaliana. It has particularly dramatic consequences in cytokinin-deficient plants and clock mutants. Here, we argue that studying the impact of an altered photoperiod w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::669b7665f5ce172fec483fc5b272da97
https://doi.org/10.1016/j.tplants.2017.09.005
https://doi.org/10.1016/j.tplants.2017.09.005