Results 121 to 130 of about 37,609 (272)

Prevalence of Trinucleotide Expansions in SCA17/TBP and JPH3 Genes and Octapeptide Insertion in PRNP Gene in Iranian Patients with Huntington-Disease like Syndrome

Medical Laboratory Journal, 2020
Background and objective:  Huntingtonchr('39')s disease (HD) is an autosomal dominant disorder that mainly affects adults. Although mutations in the IT15 gene have been known as the main cause of the disease, patients with HD like (HDL) syndrome have ...
mana zakeri, amir hosein babaei, mohamad taghi akbari, shohreh zare, faravar khordadpoor   +4 more
doaj  

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study

Movement Disorders, EarlyView.
Abstract Background Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. Objectives We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B ...
Salomé Puisieux, Elise Pourié, Céline Bonnet, Lucie Hopes, Solène Frismand, Myriam Bronner, Virginie Roth, Marion Wandzel, Natacha Sloboda, Laetitia Lambert, Abderrahim Oussalah, Amélia Julien, Irina Rotaru, Rosa‐Maria Guéant‐Rodriguez, Jean Louis Guéant, Carine Bossenmeyer‐Pourié, Mathilde Renaud   +16 more
wiley   +1 more source

The Clinical Manifestation of Homozygous Huntington's Disease

Clinical Case Reports
Huntington's disease is an incurable neurodegenerative disease with deficits in many areas including cognitive, psychiatric, and most notably, motor. It is autosomal dominant, meaning one affected allele is enough to express the condition.
Brishti Sengupta, Pritha Dasgupta
doaj   +1 more source

The Mycobacterium tuberculosis Rv0132c Gene Product Mtb‐FGD2 Can Act as an F420‐Dependent Glucose Dehydrogenase

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT The role of the cell envelope‐associated Rv0132c/FGD2 from Mycobacterium tuberculosis has long been a subject of debate. Importantly, FGD2 is found only in pathogenic mycobacteria, making it a potential drug target. While some suggest it functions as a glucose‐6‐phosphate dehydrogenase, others propose it acts instead as an F420‐dependent ...
Adewale V. Aderemi, Matthew Snee, Richard B. Tunnicliffe, Linus O. Johanissen, Matthew J. Cliff, Colin W. Levy, Derren J. Heyes, Marina Golovanova, Thomas A. Jowitt, Sam Hay, Andrew W. Munro, Jonathan P. Waltho, David Leys   +12 more
wiley   +1 more source

Huntington Disease [PDF]

Journal of Neuropathology and Experimental Neurology, 1998
J P, Vonsattel, M, DiFiglia
openaire   +2 more sources

Recent Advances in Photocatalyst‐Driven Protein Labeling and Proximity Mapping

The Chemical Record, EarlyView.
Photocatalyst‐driven protein labeling and proximity mapping have rapidly advanced as powerful strategies for spatiotemporal control in complex biological environments. This review integrates recent developments across single‐electron transfer and energy transfer‐based mechanisms and highlights how catalyst design, reactive intermediates, and diffusion ...
Shinichi Sato, Kazuki Miura, Juki Nakao, Hiroyuki Nakamura   +3 more
wiley   +1 more source

Environmental Mycotoxins and Brain Health: Protective Role of Bromelain Against Fumonisin B1 in SH‐SY5Y Cells

Environmental Toxicology, EarlyView.
ABSTRACT Fumonisin B1 (FB1), a mycotoxin commonly found in contaminated food and feed, has been increasingly implicated in neurotoxicity, although its mechanisms remain poorly understood. This study investigates the neurotoxic potential of FB1 in human SH‐SY5Y neuroblastoma cells, both undifferentiated and RA‐differentiated, and evaluates the ...
Gianluca Antonio Franco, Francesca Inferrera, Nicla Tranchida, Davide Di Paola, Roberta Fusco, Salvatore Cuzzocrea, Enrico Gugliandolo   +6 more
wiley   +1 more source

Assessing the prognostic value of early oculomotor abnormalities in Huntington’s disease

Frontiers in Neurology
BackgroundAbnormalities of eye movements occur early in the disease course of Huntington’s disease, often preceding clinical motor diagnosis. The increasing availability of digital eye tracking tools indicate a potential role for eye movements as ...
Ahmad Kaddoura, Ahmad Kaddoura, Solveig E. J. Dalbro, Solveig E. J. Dalbro, Marleen R. van Walsem, Lasse Pihlstrøm, Lasse Pihlstrøm   +6 more
doaj   +1 more source

A Randomized, Double-blind, Placebo-Controlled Study of Latrepirdine in Patients With Mild to Moderate Huntington Disease.

, 2013
BACKGROUND Latrepirdine is an orally administered experimental small molecule that was initially developed as an antihistamine and subsequently was shown to stabilize mitochondrial membranes and function, which might be impaired in Huntington disease ...
SALVATORE, ELENA, SACCA', FRANCESCO, HORIZON Investigators of the Huntington Disease Study Group, DE MICHELE, GIUSEPPE, European Huntington's Disease Network   +4 more
core   +1 more source

Reduced Dopamine Transporter Uptake in Dentatorubral‐Pallidoluysian Atrophy

Movement Disorders Clinical Practice, EarlyView.
Kei Okuba, Shugo Fujita, Hitoshi Kawasaki, Genko Oyama   +3 more
wiley   +1 more source