Zobrazeno 1 - 10
of 275
pro vyhledávání: '"Forbes D. Porter"'
Autor:
Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Hibaaq Mohamed, Nicole M. Farhat, Derek Alexander, An Dang Do, Forbes D. Porter
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historically recognized as a pediatric disease. However, awareness of the adult-onset (AO) subtype is increasing, ofte
Externí odkaz:
https://doaj.org/article/954bb916d1a74534ba1849572fe06fed
Autor:
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101013- (2023)
Externí odkaz:
https://doaj.org/article/7478f096bc7c42d689df92b257b8df3b
Autor:
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101001- (2023)
Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay. The biomarkers Aβ40, Aβ42 an
Externí odkaz:
https://doaj.org/article/f3fb51c11aca47f49c9ed8fa1ae4f882
Autor:
Erica L. Lyons, Daniel Watson, Mohammad S. Alodadi, Sharie J. Haugabook, Gregory J. Tawa, Fady Hannah-Shmouni, Forbes D. Porter, Jack R. Collins, Elizabeth A. Ottinger, Uma S. Mudunuri
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-18 (2023)
Abstract Background Approximately 4–8% of the world suffers from a rare disease. Rare diseases are often difficult to diagnose, and many do not have approved therapies. Genetic sequencing has the potential to shorten the current diagnostic process,
Externí odkaz:
https://doaj.org/article/e690a548a1d4449da411eb08d584528a
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:
Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Nicole M. Farhat, Andrew C. Smith, Simona Bianconi, An Dang Do, Michael C. Backman, Leonza Machielse, Forbes D. Porter
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Niemann–Pick disease type C1 (NPC1) is a rare autosomal recessive disease characterized by endolysosomal accumulation of unesterified cholesterol with progressive deterioration in swallowing, often leading to premature death. Al
Externí odkaz:
https://doaj.org/article/a589af172dbf411c82f42782fcb4e9e3
Autor:
Hoda Zarkoob, Anna Allué-Guardia, Yu-Chi Chen, Andreu Garcia-Vilanova, Olive Jung, Steven Coon, Min Jae Song, Jun-Gyu Park, Fatai Oladunni, Jesse Miller, Yen-Ting Tung, Ivan Kosik, David Schultz, James Iben, Tianwei Li, Jiaqi Fu, Forbes D. Porter, Jonathan Yewdell, Luis Martinez-Sobrido, Sara Cherry, Jordi B. Torrelles, Marc Ferrer, Emily M. Lee
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-17 (2022)
Human alveolar and tracheobronchial epithelial air liquid interface (ALI) tissues are used as models to examine cellular responses to SARS-CoV-2 and influenza A virus infections and as antiviral drug screening assay platforms.
Externí odkaz:
https://doaj.org/article/003ca60ed064430890c5954d0c4a6343
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:
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