Structural and mechanistic principles of ABC transporters
C Thomas, R Tampé - Annual review of biochemistry, 2020 - annualreviews.org
ATP-binding cassette (ABC) transporters constitute one of the largest and most ancient
protein superfamilies found in all living organisms. They function as molecular machines by …
protein superfamilies found in all living organisms. They function as molecular machines by …
Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities
N Schneider, Y Sundaresan, P Gopalakrishnan… - Progress in retinal and …, 2022 - Elsevier
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
[HTML][HTML] Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
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 …
The human ATP‐binding cassette (ABC) transporter superfamily
M Dean, K Moitra, R Allikmets - Human mutation, 2022 - Wiley Online Library
The ATP‐binding cassette (ABC) transporter superfamily comprises membrane proteins that
efflux various substrates across extra‐and intracellular membranes. Mutations in ABC genes …
efflux various substrates across extra‐and intracellular membranes. Mutations in ABC genes …
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy
and is associated with disease-causing sequence variants in the gene ABCA4. Significant …
and is associated with disease-causing sequence variants in the gene ABCA4. Significant …
Risk factors and biomarkers of age-related macular degeneration
NG Lambert, H ElShelmani, MK Singh… - Progress in retinal and …, 2016 - Elsevier
A biomarker can be a substance or structure measured in body parts, fluids or products that
can affect or predict disease incidence. As age-related macular degeneration (AMD) is the …
can affect or predict disease incidence. As age-related macular degeneration (AMD) is the …
[HTML][HTML] Transplantation of human embryonic stem cell-derived retinal pigment epithelial cells in macular degeneration
Purpose Transplantation of human embryonic stem cell (hESC)-derived retinal pigment
epithelial (RPE) cells offers the potential for benefit in macular degeneration. Previous trials …
epithelial (RPE) cells offers the potential for benefit in macular degeneration. Previous trials …
[HTML][HTML] Retinal remodeling in human retinitis pigmentosa
Retinitis Pigmentosa (RP) in the human is a progressive, currently irreversible neural
degenerative disease usually caused by gene defects that disrupt the function or …
degenerative disease usually caused by gene defects that disrupt the function or …
[HTML][HTML] Progress in treating inherited retinal diseases: early subretinal gene therapy clinical trials and candidates for future initiatives
Due to improved phenoty** and genetic characterization, the field of 'incurable'and
'blinding'inherited retinal diseases (IRDs) has moved substantially forward. Decades of …
'blinding'inherited retinal diseases (IRDs) has moved substantially forward. Decades of …