Disrupted neuronal trafficking in amyotrophic lateral sclerosis

K Burk, RJ Pasterkamp - Acta neuropathologica, 2019‏ - Springer
Amyotrophic lateral sclerosis (ALS) is a progressive, adult-onset neurodegenerative disease
caused by degeneration of motor neurons in the brain and spinal cord leading to muscle …

Emerging views of OPTN (optineurin) function in the autophagic process associated with disease

Y Qiu, J Wang, H Li, B Yang, J Wang, Q He, Q Weng - Autophagy, 2022‏ - Taylor & Francis
Macroautophagy/autophagy is a highly conserved process in eukaryotic cells. It plays a
critical role in cellular homeostasis by delivering cytoplasmic cargos to lysosomes for …

Major review: Molecular genetics of primary open-angle glaucoma

Y Liu, RR Allingham - Experimental eye research, 2017‏ - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), the most common type, is a complex inherited disorder that is …

Nitrogen and phosphorus co-doped graphene quantum dots: synthesis from adenosine triphosphate, optical properties, and cellular imaging

A Ananthanarayanan, Y Wang, P Routh, MA Sk… - Nanoscale, 2015‏ - pubs.rsc.org
Graphene quantum dots (GQDs) are emerging zero-dimensional materials promising a wide
spectrum of applications, particularly, as superior fluorescent reporters for bio-imaging and …

The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology

SF Janssen, TGMF Gorgels, WD Ramdas… - Progress in retinal and …, 2013‏ - Elsevier
Primary open angle glaucoma (POAG) is a complex progressive optic nerve neuropathy
triggered by both environmental and genetic risk factors. Several ocular tissues, including …

Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative …

WC Shen, HY Li, GC Chen, Y Chern, P Tu - Autophagy, 2015‏ - Taylor & Francis
OPTN (optineurin) is an autophagy receptor and mutations in the OPTN gene result in
familial glaucoma (E50K) and amyotrophic lateral sclerosis (ALS)(E478G). However, the …

Optineurin: a coordinator of membrane-associated cargo trafficking and autophagy

TA Ryan, DA Tumbarello - Frontiers in immunology, 2018‏ - frontiersin.org
Optineurin is a multifunctional adaptor protein intimately involved in various vesicular
trafficking pathways. Through interactions with an array of proteins, such as myosin VI …

Dysfunction of optineurin in amyotrophic lateral sclerosis and glaucoma

RP Toth, JD Atkin - Frontiers in immunology, 2018‏ - frontiersin.org
Neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), frontotemporal
dementia, and glaucoma, affect millions of people worldwide. ALS is caused by the loss of …

Differentially expressed microRNAs in the aqueous humor of patients with exfoliation glaucoma or primary open-angle glaucoma

MD Drewry, P Challa, JG Kuchtey… - Human molecular …, 2018‏ - academic.oup.com
Both exfoliation glaucoma (XFG) and primary open-angle glaucoma (POAG) have been
linked to decreased conventional outflow of aqueous humor (AH). To better understand the …

Significance of optineurin mutations in glaucoma and other diseases

Y Minegishi, M Nakayama, D Iejima, K Kawase… - Progress in retinal and …, 2016‏ - Elsevier
Glaucoma is one of the leading causes of bilateral blindness, affecting nearly 57 million
people worldwide. Glaucoma is characterized by a progressive loss of retinal ganglion cells …