Sphingolipids as critical players in retinal physiology and pathology
MV Simon, SK Basu, B Qaladize, R Grambergs… - Journal of lipid …, 2021 - ASBMB
Sphingolipids have emerged as bioactive lipids involved in the regulation of many
physiological and pathological processes. In the retina, they have been established to …
physiological and pathological processes. In the retina, they have been established to …
Advances in GBA-associated Parkinson's disease–Pathology, presentation and therapies
GBA mutations are to date the most common genetic risk factor for Parkinson's disease. The
GBA gene encodes the lysomal hydrolase glucocerebrosidase. Whilst bi-allelic GBA …
GBA gene encodes the lysomal hydrolase glucocerebrosidase. Whilst bi-allelic GBA …
Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative
A Mehta, DJ Kuter, SS Salek… - Internal Medicine …, 2019 - Wiley Online Library
Background Gaucher disease (GD) presents with a range of signs and symptoms.
Physicians can fail to recognise the early stages of GD owing to a lack of disease …
Physicians can fail to recognise the early stages of GD owing to a lack of disease …
Regulating survival and development in the retina: key roles for simple sphingolipids
NP Rotstein, GE Miranda, CE Abrahan… - Journal of lipid …, 2010 - ASBMB
Many sphingolipids have key functions in the regulation of crucial cellular processes.
Ceramide (Cer) and sphingosine (Sph) induce growth arrest and cell death in multiple …
Ceramide (Cer) and sphingosine (Sph) induce growth arrest and cell death in multiple …
Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder
AW Winter, A Salimi, LH Ospina… - British Journal of …, 2019 - bjo.bmj.com
Gaucher disease (GD) results from a deficiency of glucocerebrosidase activity and the
subsequent accumulation of the enzyme's metabolites, principally glucosylsphingosine and …
subsequent accumulation of the enzyme's metabolites, principally glucosylsphingosine and …
Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degeneration
LM Pujol-Lereis, G Liebisch, T Schick, Y Lin… - PLoS …, 2018 - journals.plos.org
Sphingolipids are bioactive molecules associated with oxidative stress, inflammation, and
neurodegenerative diseases, but poorly studied in the context of age-related macular …
neurodegenerative diseases, but poorly studied in the context of age-related macular …
Ceramide signaling in retinal degeneration
H Chen, JTA Tran, RS Brush, A Saadi… - Retinal Degenerative …, 2012 - Springer
Retinal degenerations (RD) are a complex heterogeneous group of diseases in which
retinal photoreceptors and the supporting retinal pigment epithelial cells die irreversibly …
retinal photoreceptors and the supporting retinal pigment epithelial cells die irreversibly …
[HTML][HTML] Unveiling enigmatic essence of Sphingolipids: A promising avenue for glaucoma treatment
I Iezhitsa, R Agarwal, P Agarwal - Vision Research, 2024 - Elsevier
Abstract Treatment of glaucoma, the leading cause of irreversible blindness, remains
challenging. The apoptotic loss of retinal ganglion cells (RGCs) in glaucoma is the …
challenging. The apoptotic loss of retinal ganglion cells (RGCs) in glaucoma is the …
Ophthalmological findings in Gaucher disease
A Eghbali, S Hassan, G Seehra, E FitzGibbon… - Molecular genetics and …, 2019 - Elsevier
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by
mutations in the gene GBA1, which encodes the lysosomal protein glucocerebrosidase …
mutations in the gene GBA1, which encodes the lysosomal protein glucocerebrosidase …
Ceramides in the pathophysiology of the anterior segment of the eye
A Robciuc, T Hyötyläinen, M Jauhiainen… - Current eye …, 2013 - Taylor & Francis
Purpose: Sphingolipid (SL) research reached a peak in the past years. Yet this positive trend
was not evident for eye research as the relative number of studies centered on SLs is …
was not evident for eye research as the relative number of studies centered on SLs is …