Results 71 to 80 of about 266,209 (210)

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.

, 2016
The nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) enzyme is essential for regenerating the nuclear pool of NAD(+) in all nucleated cells in the body, and mounting evidence also suggests that it has a separate role in neuroprotection.
Shi, Lan Ying, Liu, Qin, Hicks, Wanda L, Krebs, Mark P, Collin, Gayle B, Brown, Steve D M, Stone, Lisa, Bowl, Michael R, Staniszewska, Magdalena, Nishina, Patsy M, Greenwald, Scott H, Pierce, Eric A, Charette, Jeremy R   +12 more
core   +1 more source

Reflections on emerging therapies for inherited retinal diseases following a community education event: A qualitative exploration

Optometry and Vision Science, Volume 103, Issue 7, July 2026.
ABSTRACT Purpose To explore the inherited retinal diseases (IRD) communities' attitudes and perspective toward emerging therapies—specifically gene therapy, cell therapy, and retinal prostheses—following a community education event. Methods At an in‐person half‐day IRD community education event, subject‐matter experts presented the scientific ...
Eden G. Robertson, Jorden Hua, Kate Hetherington, Michelle O’Hara‐Wright, Anai Gonzalez‐Cordero   +4 more
wiley   +1 more source

Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis.

PLoS Medicine, 2006
BackgroundRPE65 is specifically expressed in the retinal pigment epithelium and is essential for the recycling of 11-cis-retinal, the chromophore of rod and cone opsins.
Alexis-Pierre Bemelmans, Corinne Kostic, Sylvain V Crippa, William W Hauswirth, Janis Lem, Francis L Munier, Mathias W Seeliger, Andreas Wenzel, Yvan Arsenijevic   +8 more
doaj   +1 more source

Next‐Generation Strategies for Neural Repair and Regeneration: Neural Organoid Transplantation in the CNS

Cell Proliferation, Volume 59, Issue 6, June 2026.
Neurological disorders are hard to treat. Stem cell‐derived neural organoids enable research, and their transplantation aids CNS therapy, with this article reviewing relevant advances, challenges and prospects. ABSTRACT Neurological disorders are often devastating and notoriously difficult to repair, creating an urgent need for novel research models ...
Yutong Wang, Jinrui Li, Xingjia Mao, Wanyu Wang, Yansong Li, Xuefei Hu, Jinjie Zhong, Fengdong Zhao, Linlin Wang   +8 more
wiley   +1 more source

NMNAT1 mutations cause Leber congenital amaurosis.

, 2012
Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss(1,2). Two-thirds of LCA cases are caused by mutations in 17 known disease-associated genes(3) (Retinal Information Network ...
Nakamaru-Ogiso, E, Mackay, DS, Zhang, Q, Kannabiran, C, Moore, Anthony, Chakarova, C, Audo, I, Falk, MJ, Fonseca-Kelly, Z, Zeitz, C, Borman, AD   +10 more
core  

Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report

, 2022
To report the concurrent presentation and management of IQCB1-associated Leber Congenital Amaurosis and NDP-associated Familial Exudative Vitreoretinopathy (FEVR).
Robert A. Sisk (6658529), Brittany N. Simpson (14173958), Stefanie Benoit (14173961), Jared J. Ebert (14173955), Diana S. Brightman (13138482), Virginia Miraldi Utz (14173952)   +5 more
core   +1 more source

Current Concepts in the Treatment of Retinitis Pigmentosa

Journal of Ophthalmology, 2011
Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), affect 1 in 4000 individuals in the general population.
Maria A. Musarella, Ian M. MacDonald
doaj   +1 more source

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX

, 2001
We summarize 18 mutations in the human CRX gene that have been associated with Leber congenital amaurosis (congenital retinal blindness), cone-rod degeneration, or retinitis pigmentosa.
Rivolta, C., Dryja, Thaddeus P., Rivolta, Carlo, Berson, Eliot L., Dryja, T. P., Berson, E. L.   +5 more
core   +1 more source

CRISPR/Cas9-mediated generation of a homozygous CRB2 knockout H1 human embryonic stem cell line

Stem Cell Research
Mutations in the Crumbs homolog 2 (CRB2) gene cause various autosomal recessive genetic diseases, such as leber congenital amaurosis, retinitis pigmentosa and ventriculomegaly with cystic kidney disease.
Lei Zhang, Fengfeng Zhang, Mingze Yao
doaj   +1 more source

Nonpenetrance of the Most Frequent Autosomal Recessive Leber Congenital Amaurosis Mutation in NMNAT1

, 2014
Item does not contain fulltextIMPORTANCE: The NMNAT1 gene was recently found to be mutated in a subset of patients with Leber congenital amaurosis and macular atrophy.
Siemiatkowska, A.M., Riemslag, F.C., Collin, R.W.J., Vries, B. de, Cremers, F.P., Schuurs-Hoeijmakers, J.H.M., Boonstra, F.N., Bosch, D.G.M., Hollander, A.I. den, Ruiter, M.   +9 more
core   +1 more source