Results 31 to 40 of about 61,421 (256)

α-Synuclein pathology in post-mortem retina and optic nerve is specific for α-synucleinopathies

npj Parkinson's Disease, 2023
There is increasing interest in studying retinal biomarkers for various neurodegenerative diseases. Specific protein aggregates associated with neurodegenerative diseases are present in the retina and could be visualised in a non-invasive way. This study
Frederique J. Hart de Ruyter, Tjado H. J. Morrema, Jurre den Haan, Gina Gase, Jos W. R. Twisk, Johannes F. de Boer, Philip Scheltens, Femke H. Bouwman, Frank D. Verbraak, Annemieke J. M. Rozemuller, Jeroen J. M. Hoozemans   +10 more
doaj   +1 more source

Meta‐analysis fails to show any correlation between protein abundance and ubiquitination changes

FEBS Open Bio, EarlyView.
We analyzed over 50 published proteomics datasets to explore the relationship between protein levels and ubiquitination changes across multiple experimental conditions and biological systems. Although ubiquitination is often associated with protein degradation, our analysis shows that changes in ubiquitination do not globally correlate with changes in ...
Nerea Osinalde, Unai Alduntzin, Gorka Prieto, Ugo Mayor   +3 more
wiley   +1 more source

Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A

American Journal of Ophthalmology Case Reports
Purpose: To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A. Observations: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment,
Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J.F. Boon   +5 more
doaj   +1 more source

Intercompartmental communication in senescence

FEBS Open Bio, EarlyView.
Senescent cells experience structural changes in the plasma membrane, endoplasmic reticulum, mitochondria, lysosomes, nucleus, and cytoskeleton. These alterations disrupt crosstalk among cellular compartments, impairing vesicular trafficking, contact sites, and molecular flow.
Krystyna Mazan‐Mamczarz, Eleanor J. Wind, Jixiang Leng, Myriam Gorospe   +3 more
wiley   +1 more source

Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome

Journal of Current Ophthalmology, 2015
Purpose: To report a case of Wolfram syndrome (WS) characterized by diabetes mellitus, diabetes insipidus, progressive optic atrophy, and deafness. Case report: A 19-year-old female patient, a known case of diabetes mellitus type I from six years before,
Nasrollah Maleki, Bahman Bashardoust, Anahita Zakeri, Azita Salehifar, Zahra Tavosi   +4 more
doaj   +1 more source

Long‐term hippocampal alterations and cognitive impairment in a murine model of surgical sepsis

FEBS Open Bio, EarlyView.
Using a mouse model of surgical sepsis, we tested long‐term memory and analyzed the transcriptome of single cells isolated from the hippocampus. Survivor mice showed worse memory, loss of certain brain cell subpopulations, and abnormal immune cell activity—suggesting that post‐sepsis brain alterations may be linked to cognitive deficits.
Dong Seong Cho, Rebecca Schmitt, Aneesha Dasgupta, Alexandra Ducharme, Jason Doles   +4 more
wiley   +1 more source

Medical management of hereditary optic neuropathies

Frontiers in Neurology, 2014
Hereditary optic neuropathies are diseases of the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e. the maternally inherited Leber’s Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA).
Chiara eLa Morgia, Chiara eLa Morgia, Michele eCarbonelli, Piero eBarboni, Piero eBarboni, Alfredo Arrigo Sadun, Valerio eCarelli, Valerio eCarelli   +7 more
doaj   +1 more source

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene

American Journal of Ophthalmology Case Reports, 2022
Purpose: Wolfram syndrome is a rare genetic disorder characterized by juvenile onset of diabetes mellitus with bilateral optic atrophy. We report a case of adult onset Wolfram syndrome with diabetes mellitus at age 22 and optic atrophy after age 40.
Jinhee Lee, Takuya Iwasaki, Tomoko Kaida, Hideki Chuman, Akiko Yoshimura, Yuji Okamoto, Hiroshi Takashima, Kazunori Miyata   +7 more
doaj   +1 more source

Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs

FEBS Open Bio, EarlyView.
Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner, Hainan Zhu, Carol Christine Bosholm, Heuy‐Ching Wang, Tracy Criswell, Anthony Atala, Jian‐Xing Ma, Yuanyuan Zhang   +7 more
wiley   +1 more source

Wolfram syndrome: A rare mimic of type 1 diabetes mellitus

CHRISMED Journal of Health and Research, 2016
Wolfram syndrome is a rare autosomal recessive disorder characterized by a constellation of disorders also known as diabetes insipidus, diabetes mellitus (DM), optic atrophy, and deafness.
Manish Gutch, Krishna Kumar Sahani, Annesh Bhattacharjee, Sukriti Kumar, Shobhit Shakya   +4 more
doaj   +1 more source