Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. [PDF]
, 2020 Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination.
Armstrong, C +28 more
core +3 more sources
A review of ocular genetics and inherited eye diseases
African Vision and Eye Health, 2012 During the past twenty years, there has been an exponential increase in the knowledge and under-standing of ocular genetic diseases and syndromes. The number of human eye diseases that have a known genetic or hereditary component continues to increase ...
S. D. Mathebula
doaj +1 more source
The Role of Mitophagy in Hereditary Optic Neuropathies. Literature Review
Oftalʹmologiâ, 2021 The role of mitophagy in hereditary optic neuropathies is considering in this review. Mitochondria are intracellular double membrane organelles. They are one of the main components of all eukaryotic cells, they perform many different functions in the ...
N. A. Andreeva +4 more
doaj +1 more source
Intravitreal Administration of Human Bone Marrow CD34+ Stem Cells in a Murine Model of Retinal Degeneration. [PDF]
, 2016 PurposeIntravitreal murine lineage-negative bone marrow (BM) hematopoietic cells slow down retinal degeneration. Because human BM CD34+ hematopoietic cells are not precisely comparable to murine cells, this study examined the effect of intravitreal human
Annett, Geralyn +10 more
core +2 more sources
Genetics in Ophthalmology II–Anterior Segment Diseases
Türk Oftalmoloji Dergisi, 2012 Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field
Canan Aslı Utine, Gülen Eda Utine
doaj +1 more source
Myelin pathology: Involvement of molecular chaperones and the promise of chaperonotherapy [PDF]
, 2019 The process of axon myelination involves various proteins including molecular chaperones. Myelin alteration is a common feature in neurological diseases due to structural and functional abnormalities of one or more myelin proteins.
Cappello F. +4 more
core +1 more source
Genetics in Ophthalmology III – Posterior Segment Diseases
Türk Oftalmoloji Dergisi, 2012 Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field
Canan Aslı Utine, Gülen Eda Utin
doaj +1 more source
Hereditary retinal eye diseases in childhood and youth affecting the central retina
Oman Journal of Ophthalmology, 2013 Hereditary dystrophies affecting the central retina represent a heterogeneous group of diseases. Mutations in different genes may be responsible for changes of the choroid (choroideremia), of the retinal pigment epithelium [RPE] (Best′s disease), of the ...
Martin M Nentwich, Guenther Rudolph
doaj +1 more source
A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy. [PDF]
, 2014 We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON).
Frousiakis, Starleen E +3 more
core +3 more sources
Small heat-shock proteins: important players in regulating cellular proteostasis [PDF]
, 2015 Small heat-shock proteins (sHsps) are a diverse family of intra-cellular molecular chaperone proteins that play a critical role in mitigating and preventing protein aggregation under stress conditions such as elevated temperature, oxidation and infection.
Carver, John A. +3 more
core +1 more source