[HTML][HTML] Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
FPM Cremers, W Lee, RWJ Collin… - Progress in retinal and eye …, 2020 - Elsevier
The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …
[HTML][HTML] The X-linked retinopathies: physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
X-linked retinopathies represent a significant proportion of monogenic retinal disease. They
include progressive and stationary conditions, with and without syndromic features. Many …
include progressive and stationary conditions, with and without syndromic features. Many …
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
I Perea-Romero, G Gordo, IF Iancu… - Scientific reports, 2021 - nature.com
Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of
photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical …
photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical …
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment
L Donato, S Alibrandi, C Scimone, C Rinaldi… - PLoS …, 2022 - journals.plos.org
Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs)
with more than 30 already known disease-causing genes. Uncertain phenotypes and …
with more than 30 already known disease-causing genes. Uncertain phenotypes and …
Eg5 targeting agents: From new anti-mitotic based inhibitor discovery to cancer therapy and resistance
I Garcia-Saez, DA Skoufias - Biochemical Pharmacology, 2021 - Elsevier
Eg5, the product of Kif11 gene, also known as kinesin spindle protein, is a motor protein
involved in the proper establishment of a bipolar mitotic spindle. Eg5 is one of the 45 …
involved in the proper establishment of a bipolar mitotic spindle. Eg5 is one of the 45 …
[HTML][HTML] Optogenetics for visual restoration: from proof of principle to translational challenges
Degenerative retinal disorders are a diverse family of diseases commonly leading to
irreversible photoreceptor death, while leaving the inner retina relatively intact. Over recent …
irreversible photoreceptor death, while leaving the inner retina relatively intact. Over recent …
[HTML][HTML] CRB1-associated retinal dystrophies: genetics, clinical characteristics, and natural history
MD Varela, M Georgiou, Y Alswaiti, J Kabbani… - American Journal of …, 2023 - Elsevier
PURPOSE To analyze the clinical characteristics, natural history, and genetics of CRB1-
associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study …
associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study …
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa
J Birtel, M Gliem, E Mangold, PL Müller, FG Holz… - PloS one, 2018 - journals.plos.org
Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal
dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next …
dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next …
Therapy approaches for Stargardt disease
E Piotter, ME McClements, RE MacLaren - Biomolecules, 2021 - mdpi.com
Despite being the most prevalent cause of inherited blindness in children, Stargardt disease
is yet to achieve the same clinical trial success as has been achieved for other inherited …
is yet to achieve the same clinical trial success as has been achieved for other inherited …
An AAV Dual Vector Strategy Ameliorates the Stargardt Phenotype in Adult Abca4−/− Mice
The recent approval in the United States of the first adeno-associated viral (AAV) vector for
the treatment of an inherited retinal degeneration validates this approach for the treatment of …
the treatment of an inherited retinal degeneration validates this approach for the treatment of …