The concept of intrinsic versus extrinsic apoptosis

L Lossi - Biochemical Journal, 2022 - portlandpress.com
Regulated cell death is a vital and dynamic process in multicellular organisms that maintains
tissue homeostasis and eliminates potentially dangerous cells. Apoptosis, one of the better …

A review of the mechanisms of cone degeneration in retinitis pigmentosa

DS Narayan, JPM Wood, G Chidlow… - Acta …, 2016 - Wiley Online Library
Retinitis pigmentosa (RP) is an inherited condition that features degeneration of rod and
cone photoreceptors. In all forms of RP, the genetic mutation is expressed exclusively in …

The cone dysfunction syndromes

J Aboshiha, AM Dubis, J Carroll… - British Journal of …, 2016 - bjo.bmj.com
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly
stationary retinal disorders characterised by reduced central vision and varying degrees of …

Activated mTORC1 promotes long-term cone survival in retinitis pigmentosa mice

A Venkatesh, S Ma, YZ Le, MN Hall… - The Journal of …, 2015 - Am Soc Clin Investig
Retinitis pigmentosa (RP) is an inherited photoreceptor degenerative disorder that results in
blindness. The disease is often caused by mutations in genes that are specific to rod …

Cell-based therapeutic strategies for replacement and preservation in retinal degenerative diseases

MK Jones, B Lu, S Girman, S Wang - Progress in Retinal and Eye Research, 2017 - Elsevier
Cell-based therapeutics offer diverse options for treating retinal degenerative diseases, such
as age-related macular degeneration (AMD) and retinitis pigmentosa (RP). AMD is …

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

AV Cideciyan, RB Hufnagel, J Carroll… - Human gene …, 2013 - liebertpub.com
Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of
cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused …

Nuclear pore complexes and nucleocytoplasmic transport: from structure to function to disease

A Dickmanns, RH Kehlenbach, B Fahrenkrog - International review of cell …, 2015 - Elsevier
Nucleocytoplasmic transport is an essential cellular activity and occurs via nuclear pore
complexes (NPCs) that reside in the double membrane of the nuclear envelope. Significant …

Nuclear pore complexes in development and tissue homeostasis

V Guglielmi, S Sakuma, MA D'Angelo - Development, 2020 - journals.biologists.com
Nuclear pore complexes are multiprotein channels that span the nuclear envelope, which
connects the nucleus to the cytoplasm. In addition to their main role in the regulation of …

Genetics and disease expression in the CNGA3 form of achromatopsia: steps on the path to gene therapy

L Zelinger, AV Cideciyan, S Kohl, SB Schwartz… - Ophthalmology, 2015 - Elsevier
Purpose Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that
manifests cone dysfunction, reduced visual acuity and color vision, nystagmus, and …

Clinical manifestations and pathogenesis of acute necrotizing encephalopathy: the interface between systemic infection and neurologic injury

P Shukla, A Mandalla, MJ Elrick… - Frontiers in neurology, 2022 - frontiersin.org
Acute necrotizing encephalopathy (ANE) is a devastating neurologic condition that can arise
following a variety of systemic infections, including influenza and SARS-CoV-2. Affected …