Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Nicole Y. Farhat"'
Autor:
Nicole Y. Farhat, Derek Alexander, Kyli McKee, James Iben, Jorge L. Rodriguez-Gil, Christopher A. Wassif, Niamh X. Cawley, William E. Balch, Forbes D. Porter
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 8, p 4217 (2024)
Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular cholesterol transport out of the endolysosomal compartment.. Marked heterogeneity has been observed in individuals with the same NPC1 genotype, thus suggesting
Externí odkaz:
https://doaj.org/article/655a087fd72f40a59361c7ef1111416f
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:
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
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
Autor:
Nisc Comparative Sequencing Program, Jorge L Rodriguez-Gil, Steven R Carlson, Kerri L. Wallom, William J. Pavan, Dawn E. Watkins-Chow, Forbes D. Porter, Arturo Incao, Laura L. Baxter, Ryan K. Dale, Frances M. Platt, Cristin Davidson, Nicole Y. Farhat, Nicholas L Johnson
Publikováno v:
Hum Mol Genet
The rare, fatal neurodegenerative disorder Niemann-Pick disease type C1 (NPC1) arises from lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurological
Autor:
Neena Agrawal, Nicole Y. Farhat, Ninet Sinaii, An Dang Do, Changrui Xiao, Elizabeth Berry-Kravis, Simona Bianconi, Ruturaj Masvekar, Bibiana Bielekova, Beth Solomon, Forbes D. Porter
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics.
Niemann-Pick Disease, type C1 (NPC1) is a neurodegenerative, lysosomal disorder caused by pathogenic variants in NPC1. Disease progression is monitored using the NPC Neurological Severity Scale (NPC-NSS), but there are currently no established valida
Publikováno v:
Pediatr Neurol
Background The purpose of the study was to evaluate the incidence of postdural puncture headache in a predominantly pediatric sample before and after a transition from conventional to atraumatic spinal needles. Methods In this retrospective cohort st