Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Mustafa S. Makia"'
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
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
Autor:
Tylor R. Lewis, Mustafa S. Makia, Mashal Kakakhel, Muayyad R. Al-Ubaidi, Vadim Y. Arshavsky, Muna I. Naash
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2020)
Mutations in the peripherin-2 gene (PRPH2, also known as rds) cause a heterogeneous range of autosomal dominant retinal diseases. PRPH2 encodes a photoreceptor-specific tetraspanin protein, PRPH2, that is a main structural component of the photorecep
Externí odkaz:
https://doaj.org/article/fad4f9571f02471eb309de69d773d5fb
Autor:
Aiden Eblimit, Mustafa S. Makia, Daniel Strayve, Ryan Crane, Shannon M. Conley, Tirthankar Sinha, Ghanashyam Acharya, Muayyad R. Al-Ubaidi, Muna I. Naash
Publikováno v:
Pharmaceutics, Vol 13, Iss 9, p 1510 (2021)
Gene and drug delivery to the retina is a critical therapeutic goal. While the majority of inherited forms of retinal degeneration affect the outer retina, specifically the photoreceptors and retinal pigment epithelium, effective targeted delivery to
Externí odkaz:
https://doaj.org/article/0a139b58594443809308ff063f0c6002
Autor:
Ayse M. Genc, Mustafa S. Makia, Tirthankar Sinha, Shannon M. Conley, Muayyad R. Al-Ubaidi, Muna I. Naash
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 21, p 8083 (2020)
The large number of inherited retinal disease genes (IRD), including the photopigment rhodopsin and the photoreceptor outer segment (OS) structural component peripherin 2 (PRPH2), has prompted interest in identifying common cellular mechanisms involv
Externí odkaz:
https://doaj.org/article/436459834f8b45faba7bab634b3c6642
Publikováno v:
Cells, Vol 9, Iss 3, p 784 (2020)
Peripherin 2 (Prph2) is a photoreceptor-specific tetraspanin protein present in the outer segment (OS) rims of rod and cone photoreceptors. It shares many common features with other tetraspanins, including a large intradiscal loop which contains seve
Externí odkaz:
https://doaj.org/article/4ef2fcb1e91f4adea540f3e066069684
Autor:
Tylor R. Lewis, Muayyad R. Al-Ubaidi, Muna I. Naash, Vadim Y. Arshavsky, Mustafa S Makia, Carson M. Castillo
Publikováno v:
J Neurosci
Mutations in thePRPH2gene encoding the photoreceptor-specific protein PRPH2 (also known as peripherin-2 or rds) cause a broad range of autosomal dominant retinal diseases. Most of these mutations affect the structure of the light-sensitive photorecep