Zobrazeno 1 - 10
of 150
pro vyhledávání: '"Steven J. Gray"'
Autor:
Alex E. Ryckman, Natalie M. Deschenes, Brianna M. Quinville, Karlaina J.L. Osmon, Melissa Mitchell, Zhilin Chen, Steven J. Gray, Jagdeep S. Walia
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 1, Pp 101168- (2024)
The pathological accumulation of GM2 ganglioside associated with Tay-Sachs disease (TSD) and Sandhoff disease (SD) occurs in individuals who possess mutant forms of the heterodimer β-hexosaminidase A (Hex A) because of mutation of the HEXA and HEXB
Externí odkaz:
https://doaj.org/article/bc193c876a02476880176551e4687473
Autor:
Samantha J. Murray, Martin P. Wellby, Graham K. Barrell, Katharina N. Russell, Ashley R. Deane, John R. Wynyard, Steven J. Gray, David N. Palmer, Nadia L. Mitchell
Publikováno v:
Frontiers in Pharmacology, Vol 14 (2023)
Mutations in the CLN5 gene cause the fatal, pediatric, neurodegenerative disease CLN5 neuronal ceroid lipofuscinosis. Affected children suffer progressive neuronal loss, visual failure and premature death. Presently there is no treatment. This study
Externí odkaz:
https://doaj.org/article/27adefd2e5a249e9bdfcb4b3c410eca6
Autor:
Nadia L. Mitchell, Samantha J. Murray, Martin P. Wellby, Graham K. Barrell, Katharina N. Russell, Ashley R. Deane, John R. Wynyard, Madeleine J. Palmer, Anila Pulickan, Phillipa M. Prendergast, Widler Casy, Steven J. Gray, David N. Palmer
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
CLN5 neuronal ceroid lipofuscinosis (NCL, Batten disease) is a rare, inherited fatal neurodegenerative disorder caused by mutations in the CLN5 gene. The disease is characterised by progressive neuronal loss, blindness, and premature death. There is
Externí odkaz:
https://doaj.org/article/0b3841eb04d94ae8a49a800c13cac451
Autor:
Hayes Wong, Alexander W.M. Hooper, Hye Ri Kang, Shiron J. Lee, Jiayi Zhao, Chanchal Sadhu, Satinder Rawat, Steven J. Gray, David R. Hampson
Publikováno v:
JCI Insight, Vol 8, Iss 11 (2023)
Fragile X syndrome is a neurodevelopmental disorder caused by the absence of the mRNA-binding protein fragile X messenger ribonucleoprotein (FMRP). Because FMRP is a highly pleiotropic protein controlling the expression of hundreds of genes, viral ve
Externí odkaz:
https://doaj.org/article/7f55ad7e4b43445b8fa490f3c56b476a
Autor:
Xin Chen, Thomas Dong, Yuhui Hu, Raffaella De Pace, Rafael Mattera, Kathrin Eberhardt, Marvin Ziegler, Terry Pirovolakis, Mustafa Sahin, Juan S. Bonifacino, Darius Ebrahimi-Fakhari, Steven J. Gray
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Spastic paraplegia 50 (SPG50) is an ultrarare childhood-onset neurological disorder caused by biallelic loss-of-function variants in the AP4M1 gene. SPG50 is characterized by progressive spastic paraplegia, global developmental delay, and subsequent
Externí odkaz:
https://doaj.org/article/2bba6f1c88c84947824d953a3f8dcd7e
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 158-168 (2021)
SURF1 (surfeit locus protein 1)-related Leigh syndrome is an early-onset neurodegenerative disorder, characterized by reduction in complex IV activity, resulting in disrupted mitochondrial function. Currently, there are no treatment options available
Externí odkaz:
https://doaj.org/article/bbf0301e1cd34206be173e0f8e5a0a58
Autor:
Ashley A. Rowe, Xin Chen, Emily R. Nettesheim, Yacine Issioui, Thomas Dong, Yuhui Hu, Souad Messahel, Saima N. Kayani, Steven J. Gray, Katherine J. Wert
Publikováno v:
EBioMedicine, Vol 85, Iss , Pp 104314- (2022)
Summary: Background: Batten disease is characterized by cognitive and motor impairment, retinal degeneration, and seizures leading to premature death. Recent studies have shown efficacy for a gene therapy approach for CLN7 Batten disease. This gene t
Externí odkaz:
https://doaj.org/article/b859d2d0d1174de2a8f28f943a782822
Autor:
Xin Chen, Thomas Dong, Yuhui Hu, Frances C. Shaffo, Nandkishore R. Belur, Joseph R. Mazzulli, Steven J. Gray
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 5 (2022)
Neuronal ceroid lipofuscinosis type 7 (CLN7) disease is a lysosomal storage disease caused by mutations in the facilitator superfamily domain containing 8 (MFSD8) gene, which encodes a membrane-bound lysosomal protein, MFSD8. To test the effectivenes
Externí odkaz:
https://doaj.org/article/e9a01f8d20414ac185829c344a5f52a1
Autor:
Matthew C. Judson, Charles Shyng, Jeremy M. Simon, Courtney R. Davis, A. Mattijs Punt, Mirabel T. Salmon, Noah W. Miller, Kimberly D. Ritola, Ype Elgersma, David G. Amaral, Steven J. Gray, Benjamin D. Philpot
Publikováno v:
JCI Insight, Vol 6, Iss 20 (2021)
Loss of the maternal UBE3A allele causes Angelman syndrome (AS), a debilitating neurodevelopmental disorder. Here, we devised an AS treatment strategy based on reinstating dual-isoform expression of human UBE3A (hUBE3A) in the developing brain. Kozak
Externí odkaz:
https://doaj.org/article/888b4e1fb7f544c69593f51d6a0911fc
Autor:
Evan Woodley, Karlaina J.L. Osmon, Patrick Thompson, Christopher Richmond, Zhilin Chen, Steven J. Gray, Jagdeep S. Walia
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 12, Iss , Pp 47-57 (2019)
GM2 gangliosidoses are a family of severe neurodegenerative disorders resulting from a deficiency in the β-hexosaminidase A enzyme. These disorders include Tay-Sachs disease and Sandhoff disease, caused by mutations in the HEXA gene and HEXB gene, r
Externí odkaz:
https://doaj.org/article/81b1255349f54990b54a557a880e9f60