Zobrazeno 1 - 10
of 119
pro vyhledávání: '"Y. Farhat"'
Autor:
Kiersten Campbell, Niamh X. Cawley, Rachel Luke, Katelin E. J. Scott, Nicholas Johnson, Nicole Y. Farhat, Derek Alexander, Christopher A. Wassif, Wenping Li, Stephanie M. Cologna, Elizabeth Berry-Kravis, An Dang Do, Ryan K. Dale, Forbes D. Porter
Publikováno v:
Biomarker Research, Vol 11, Iss 1, Pp 1-19 (2023)
Abstract Background Niemann-Pick disease, type C1 (NPC1) is an ultrarare, recessive, lethal, lysosomal disease characterized by progressive cerebellar ataxia and cognitive impairment. Although the NPC1 phenotype is heterogeneous with variable age of
Externí odkaz:
https://doaj.org/article/8ae5ae9914ad4795b2ed86f8f4902c36
Autor:
David A Smith, Elena-Raluca Nicoli, Oscar C W Chen, Alexandria Colaco, Stephan Siebel, Stephanie Newman, Dawn Shepherd, Nicole Y Farhat, Andrew E Armitage, Claire Smith, George Seligmann, Mylvaganam Jeyakumar, Alaa Abdul-Sada, Forbes D Porter, Hal Drakesmith, Frances M Platt, Nick Platt
Publikováno v:
Wellcome Open Research, Vol 7 (2023)
Background: Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal storage disorder characterized by the accumulation of multiple lipids in the late endosome/lysosomal system and reduced acidic store calcium. The lysosomal system regula
Externí odkaz:
https://doaj.org/article/88e020958a694dd6970e032b17add1f9
Autor:
Laura L. Baxter, Dawn E. Watkins-Chow, Nicholas L. Johnson, Nicole Y. Farhat, Frances M. Platt, Ryan K. Dale, Forbes D. Porter, William J. Pavan, Jorge L. Rodriguez-Gil
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract Niemann–Pick disease type C1 (NPC1) is a rare, prematurely fatal lysosomal storage disorder which exhibits highly variable severity and disease progression as well as a wide-ranging age of onset, from perinatal stages to adulthood. This he
Externí odkaz:
https://doaj.org/article/ca15cd7d85e544589362b1541d47b189
Autor:
Mark L. Schultz, Kylie J. Schache, Ruth D. Azaria, Esmée Q. Kuiper, Steven Erwood, Evgueni A. Ivakine, Nicole Y. Farhat, Forbes D. Porter, Koralege C. Pathmasiri, Stephanie M. Cologna, Michael D. Uhler, Andrew P. Lieberman
Publikováno v:
JCI Insight, Vol 7, Iss 23 (2022)
The folding and trafficking of transmembrane glycoproteins are essential for cellular homeostasis and are compromised in many diseases. In Niemann-Pick type C disease, a lysosomal disorder characterized by impaired intracellular cholesterol trafficki
Externí odkaz:
https://doaj.org/article/2bc188a944d2407a91abc2701d466d6c
Autor:
Oscar C. W. Chen, Alexandria Colaco, Lianne C. Davis, Fedir N. Kiskin, Nicole Y. Farhat, Anneliese O. Speak, David A. Smith, Lauren Morris, Emily Eden, Patricia Tynan, Grant C. Churchill, Antony Galione, Forbes D. Porter, Frances M. Platt
Publikováno v:
JIMD Reports, Vol 56, Iss 1, Pp 46-57 (2020)
Abstract Niemann‐Pick disease type C (NPC) is a neurodegenerative lysosomal storage disorder caused by mutations in either NPC1 (95% of cases) or NPC2. Reduced late endosome/lysosome calcium (Ca2+) levels and the accumulation of unesterified choles
Externí odkaz:
https://doaj.org/article/0e1a6412d2a14de1a7841b940a26ea33
Autor:
Chao Wang, Samantha M. Scott, Kanagaraj Subramanian, Salvatore Loguercio, Pei Zhao, Darren M. Hutt, Nicole Y. Farhat, Forbes D. Porter, William E. Balch
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
How epigenetics coordinate with genetics to impact protein fitness is unknown. Here, using a Variation Spatial Profiling strategy and machine learning, the authors map HDAC impact on a full set of Niemann pick C1 disease variants to quantitate an una
Externí odkaz:
https://doaj.org/article/cdd46cddd7bd45bbba719375caab04d4
Publikováno v:
Molecules, Vol 27, Iss 2, p 510 (2022)
Colorectal cancer (CRC) is a disease which is causing a high degree of mortality around the world. The present study reports the antiproliferative impact of the thioacetamide calix[4]arene, CAII receptor on a highly differentiated Caco-2 cell line. T
Externí odkaz:
https://doaj.org/article/c3d4bbe2a0a4453181710a1cc4a0de21
Autor:
Osama N. Dukmak, Salem M. Tos, Ranin F. F. Alawi, Walaa K. Y. Farhat, Diya M. Asad, Muawiyah Elqadi
Background Tuberculosis (TB) is one of the most common causes of mortality worldwide. The global tuberculosis report in 2020 states that TB remains a major public health problem. Even though the incidence of TB in Palestine has fluctuated recently, m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a66d99c158f75796065c0d378376a609
https://doi.org/10.21203/rs.3.rs-2729874/v1
https://doi.org/10.21203/rs.3.rs-2729874/v1
Akademický článek
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Autor:
Rohini Sidhu, Hui Jiang, Nicole Y. Farhat, Nuria Carrillo-Carrasco, Myra Woolery, Elizabeth Ottinger, Forbes D. Porter, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang
Publikováno v:
Journal of Lipid Research, Vol 56, Iss 6, Pp 1222-1233 (2015)
24(S)-hydroxycholesterol [24(S)-HC] is a cholesterol metabolite that is formed almost exclusively in the brain. The concentrations of 24(S)-HC in cerebrospinal fluid (CSF) and/or plasma might be a sensitive marker of altered cholesterol metabolism in
Externí odkaz:
https://doaj.org/article/ff24b5d87b0d410f9097303d737e6491