Zobrazeno 1 - 10
of 176
pro vyhledávání: '"Muna I, Naash"'
Autor:
Christian T. Rutan Woods, Mustafa S. Makia, Tylor R. Lewis, Ryan Crane, Stephanie Zeibak, Paul Yu, Mashal Kakakhel, Carson M. Castillo, Vadim Y. Arshavsky, Muna I. Naash, Muayyad R. Al-Ubaidi
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-4 (2024)
Externí odkaz:
https://doaj.org/article/917059cc7d3c43ff8935bf128c33f5af
Autor:
Christian T. Rutan Woods, Mustafa S. Makia, Tylor R. Lewis, Ryan Crane, Stephanie Zeibak, Paul Yu, Mashal Kakakhel, Carson M. Castillo, Vadim Y. Arshavsky, Muna I. Naash, Muayyad R. Al-Ubaidi
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Given the absence of approved treatments for pathogenic variants in Peripherin-2 (PRPH2), it is imperative to identify a universally effective therapeutic target for PRPH2 pathogenic variants. To test the hypothesis that formation of the elo
Externí odkaz:
https://doaj.org/article/94e927cd7efa4a8eab2a40fc7b55637d
Autor:
Ryan Crane, Mustafa S. Makia, Stephanie Zeibak, Lars Tebbe, Larissa Ikele, Christian Rutan Woods, Shannon M. Conley, Ghanashyam Acharya, Muna I. Naash, Muayyad R. Al-Ubaidi
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 2, Pp 102222- (2024)
Inherited retinal degeneration (IRD) can cause a wide range of different forms of vision loss and blindness, and in spite of extensive advancements in gene therapy research, therapeutic approaches for targeting IRDs are still lacking. We have recentl
Externí odkaz:
https://doaj.org/article/83de4bfbe4384f14add215fe4c414434
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
The soluble N-ethylmaleimide-sensitive factor (NSF) attachment protein (SNAP) receptor (SNARE) superfamily plays a pivotal role in cellular trafficking by facilitating membrane fusion events. These SNARE proteins, including syntaxins, assemble into c
Externí odkaz:
https://doaj.org/article/59b42f60dad6486db10701d04a42dd02
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-13 (2023)
Abstract Usher syndrome (USH) is the leading cause of combined deafness and blindness, with USH2A being the most prevalent form. The mechanisms responsible for this debilitating sensory impairment remain unclear. This study focuses on characterizing
Externí odkaz:
https://doaj.org/article/c81b05ace6894effa01330ea25d2f812
Autor:
Tylor R Lewis, Mustafa S Makia, Carson M Castillo, Ying Hao, Muayyad R Al-Ubaidi, Nikolai P Skiba, Shannon M Conley, Vadim Y Arshavsky, Muna I Naash
Publikováno v:
eLife, Vol 12 (2023)
Visual signal transduction takes place within a stack of flattened membranous ‘discs’ enclosed within the light-sensitive photoreceptor outer segment. The highly curved rims of these discs, formed in the process of disc enclosure, are fortified b
Externí odkaz:
https://doaj.org/article/f1a6b2b27aea469492cc14481ac299ac
Autor:
Lars Tebbe, Maggie L. Mwoyosvi, Ryan Crane, Mustafa S. Makia, Mashal Kakakhel, Dominic Cosgrove, Muayyad R. Al-Ubaidi, Muna I. Naash
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
The c.2299delG mutation in usherin causes loss of hearing and vision. Here, the authors show in a mouse model of this disease that the expression of mutant usherin leads to retinitis pigmentosa and structural defects in the photoreceptor cilium assoc
Externí odkaz:
https://doaj.org/article/db88d416d60a491d9242769716be2928
Autor:
Tirthankar Sinha, Larissa Ikelle, Mustafa S. Makia, Ryan Crane, Xue Zhao, Mashal Kakakhel, Muayyad R. Al-Ubaidi, Muna I. Naash
Publikováno v:
Redox Biology, Vol 54, Iss , Pp 102375- (2022)
Ariboflavinosis is a pathological condition occurring as a result of riboflavin deficiency. This condition is treatable if detected early enough, but it lacks timely diagnosis. Critical symptoms of ariboflavinosis include neurological and visual mani
Externí odkaz:
https://doaj.org/article/97228023d2e94f78bb7a39b4cde96337
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Dysregulation of retinal metabolism is emerging as one of the major reasons for many inherited retinal diseases (IRDs), a leading cause of blindness worldwide. Thus, the identification of a common regulator that can preserve or revert the metabolic e
Externí odkaz:
https://doaj.org/article/5b4d914643874ad29f060abf8031e1df
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
Vision and hearing disorders comprise the most common sensory disorders found in people. Many forms of vision and hearing loss are inherited and current treatments only provide patients with temporary or partial relief. As a result, developing geneti
Externí odkaz:
https://doaj.org/article/a2e2429acaa248a5802c1eb3b0e37614