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Skip to Search Results- 1Abdrabou, Abdalla
- 1Abeysundara, Namal W
- 1Almubarak, Asra
- 1Alyenbaawi, Hadeel E
- 1Arnold, Kirsten J
- 1Attia, Karen
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Fall 2021
Rationale: The Dlx1/Dlx2 double knockout (DKO) mouse demonstrates major defects during retina development including significantly reduced number of retinal ganglion cells (RGCs) due to enhanced apoptosis of RGCs and consequently thinning of the optic nerve. In addition, the Dlx1/Dlx2 DKO mouse...
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Fall 2017
Development of the vertebrate ocular structures requires the cooperative interactions of transcription factors, signalling proteins, external growth factors, and epigenetic regulatory factors. Consequently, misregulation of these cues can result in a number of developmental and functional...
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Spring 2018
Choroideremia is an X-linked monogenic inherited retinal disease. It affects males starting in their teenage years with night blindness followed by progressive vision loss starting in the peripherals and ending with total vision loss late in life. It is estimated that 1 in 50,000 individuals...
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Fall 2017
NPAS3 encodes a transcription factor of the bHLH-PAS family, which has been robustly associated with neurodevelopmental and psychiatric disorders with intellectual disability as a common feature. NPAS3 was initially discovered as a schizophrenia-associated gene in a family with a translocation...
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Inactivation of Magel2 in a mouse model of Prader-Willi Syndrome alters autophagy in the hypothalamus and impairs muscle function
DownloadFall 2016
Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder causing severe neonatal hypotonia that persists until adulthood, reduced muscle mass, and hyperphagia leading to childhood-onset obesity. PWS is caused by inactivation of several genes located on chromosome 15q11-q13, including MAGEL2....
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Innate Immunity and the Retinal Pigment Epithelium in Gene Therapy for Inherited Retinal Disorders
DownloadFall 2021
Background: The photoreceptors are post-mitotic (no longer dividing), so the eye has evolved several unique immunological mechanisms to protect the photoreceptors and prevent vision loss. Inherited retinal disorders occur when mutations disrupt normal retinal function and photoreceptors die....
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Investigating 14-3-3 Protein Subcellular Localization, Colocalization with Subcellular Markers and Interaction with Rac1
DownloadFall 2019
14-3-3 proteins are a group of widely expressed, highly conserved homo/heterodimeric acidic proteins. They usually bind to serine/threonine phosphorylated proteins, but also bind to proteins in a phosphorylation-independent manner. 14-3-3 proteins have over 200 binding partners. 14-3-3 proteins...
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Investigating Disease Presentation and Mechanism in RP1L1-Associated Photoreceptor Degeneration
DownloadFall 2021
Photoreceptor disease results in irreparable vision loss and blindness, which has a dramatic impact on quality of life. Retinitis pigmentosa 1-like 1 (RP1L1) is a component of the photoreceptor axoneme, the backbone structure of the photoreceptor’s light-sensing outer segment. Pathogenic variants...
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Fall 2020
Rac1 is a small GTPase that belongs to the Rho family. Like other Rho family GTPases, it mediates a plethora of cellular effects, including regulation of cytoarchitecture, cell size, cell adhesion, cell polarity, cell motility, proliferation, apoptosis/survival, and membrane trafficking. The...