Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Andy Golden"'
Autor:
Katherine W. Timothy, Rosemary Bauer, Kerry A. Larkin, Edward P. Walsh, Dominic J. Abrams, Cecilia Gonzalez Corcia, Alexandra Valsamakis, Geoffrey S. Pitt, Ivy E. Dick, Andy Golden
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-21 (2024)
Abstract Background Timothy syndrome (OMIM #601005) is a rare disease caused by variants in the gene CACNA1C. Initially, Timothy syndrome was characterized by a cardiac presentation of long QT syndrome and syndactyly of the fingers and/or toes, all a
Externí odkaz:
https://doaj.org/article/94f4b108add54d16bf2424766bb1fc70
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 6 (2024)
Externí odkaz:
https://doaj.org/article/46e4c2b959e24f62b00fc635bdbfc57e
Autor:
Peter A. Kropp, Philippa Rogers, Sydney E. Kelly, Rebecca McWhirter, Willow D. Goff, Ian M. Levitan, David M. Miller, Andy Golden
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 2 (2023)
Externí odkaz:
https://doaj.org/article/7fad760d19074a22ad90ec75e984d5ed
Autor:
Elodie Mailler, Carlos M. Guardia, Xiaofei Bai, Michal Jarnik, Chad D. Williamson, Yan Li, Nunziata Maio, Andy Golden, Juan S. Bonifacino
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
ATG9A is transmembrane autophagic machinery protein that delivers phospholipids to expanding autophagosomes. Mailler et al. show that ATG9A is required to mobilize lipids from lipid droplets for autophagosome expansion as well as mitochondrial fatty
Externí odkaz:
https://doaj.org/article/bc3b482686c54ef6a34fb727e681922d
Publikováno v:
Bio-Protocol, Vol 12, Iss 6 (2022)
Analysis of DNA double strand breaks (DSBs) is important for understanding dyshomeostasis within the nucleus, impaired DNA repair mechanisms, and cell death. In the C. elegans germline, DSBs are important indicators of all three above-mentioned condi
Externí odkaz:
https://doaj.org/article/8be3169ae5834a1487218d8b2ac02e5c
Autor:
Nirajan Bhandari, Christine Rourke, Thomas Wilmoth, Alekya Bheemreddy, David Schulman, Dina Collins, Harold E. Smith, Andy Golden, Aimee Jaramillo-Lambert
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 10, Iss 4, Pp 1183-1191 (2020)
Topoisomerase II is an enzyme with important roles in chromosome biology. This enzyme relieves supercoiling and DNA and RNA entanglements generated during mitosis. Recent studies have demonstrated that Topoisomerase II is also involved in the segrega
Externí odkaz:
https://doaj.org/article/72399f6b036340baaecd6066126141d3
Autor:
Moriah Eustice, Daniel Konzman, Jeff M Reece, Salil Ghosh, Jhullian Alston, Tyler Hansen, Andy Golden, Michelle R Bond, Lara K Abramowitz, John A Hanover
Publikováno v:
PLoS ONE, Vol 17, Iss 9, p e0274076 (2022)
Genetic and environmental manipulations, such as dietary restriction, can improve both health span and lifespan in a wide range of organisms, including humans. Changes in nutrient intake trigger often overlapping metabolic pathways that can generate
Externí odkaz:
https://doaj.org/article/05b33ff8048849d79b4eb46114e9de85
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 8 (2021)
Although nearly 10% of Americans suffer from a rare disease, clinical progress in individual rare diseases is severely compromised by lack of attention and research resources compared to common diseases. It is thus imperative to investigate these dis
Externí odkaz:
https://doaj.org/article/3ad6cc3a3b2543abb0f50730e46399c1
Autor:
Peter A Kropp, Jing Wu, Michael Reidy, Sanjay Shrestha, Kyle Rhodehouse, Philippa Rogers, Michael N Sack, Andy Golden
Publikováno v:
PLoS Genetics, Vol 17, Iss 8, p e1009771 (2021)
Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1) is a rare, autosomal recessive disorder caused by mutations in the NFU1 gene. NFU1 is responsible for delivery of iron-sulfur clusters (ISCs) to recipient proteins which require these metallic co
Externí odkaz:
https://doaj.org/article/eebc84e01da84107a8a3c5604eb644ba
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Timothy Syndrome (TS) (OMIM #601005) is a rare autosomal dominant syndrome caused by variants in CACNA1C, which encodes the α1C subunit of the voltage-gated calcium channel Cav1.2. TS is classically caused by only a few different genetic changes and
Externí odkaz:
https://doaj.org/article/1f02af8404044061aead512304cde8f8