Results 91 to 100 of about 4,594 (188)

Transcriptional coactivator CIITA, a functional homolog of TAF1, has kinase activity [PDF]

open access: yesBiochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 2013
The Major Histocompatibility Complex (MHC) class II transactivator (CIITA) mediates activated immune responses and its deficiency results in the Type II Bare Lymphocyte Syndrome. CIITA is a transcriptional co-activator that regulates γ-interferon-activated transcription of MHC class I and class II genes.
Katherine C, Soe   +2 more
openaire   +2 more sources

Voice and Speech in Deep Brain Stimulation in Dystonia: A Retrospective Study, Systematic Review, and Meta‐Analysis

open access: yesMovement Disorders, Volume 41, Issue 9, Page 2455-2466, September 2026.
Abstract Background Relatively little is known about voice and speech abnormalities and their changes after deep brain stimulation (DBS) in patients with dystonia. Objective The aim was to determine the incidence of speech abnormalities, including laryngeal dystonia, among patients with dystonia receiving DBS and to characterize their response to this ...
Ian O. Bledsoe   +7 more
wiley   +1 more source

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

open access: yesThe FEBS Journal, Volume 293, Issue 18, Page 5481-5513, September 2026.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril   +2 more
wiley   +1 more source

Therapeutic potential of TAF1 bromodomains for cancer treatment

open access: yes, 2018
ABSTRACT The discovery of the antiproliferative effects of BRD4 bromodomain inhibitors prompted us to investigate additional bromodomains that might be involved in supporting cellular proliferation. TAF1 is a general transcription factor with two bromodomains that is likely to play important roles in cell viability by supporting ...
Garcia-Carpizo, Veronica   +3 more
openaire   +1 more source

CD4+ Tregs Drive Post‐Ischemic Sprouting Angiogenesis via Endothelial YY1/MAML1 Reactivation

open access: yesAdvanced Science, Volume 13, Issue 45, 13 August 2026.
ABSTRACT Microvascular complications of diabetes are chronic diseases of small vessels. We previously found that CD4+ regulatory T‐cells (Tregs) are markedly reduced in type 2 diabetes (T2D) after ischemic injury in both mice and humans, and that Treg deficiency in immunodeficient mice impairs vascular regeneration.
Hang Qu   +10 more
wiley   +1 more source

Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag)

open access: yesBrain Sciences, 2017
X-linked dystonia–parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or “Lubag” disease, was first described as an endemic disease in the Philippine island of Panay.
Toshitaka Kawarai   +3 more
doaj   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

open access: yesEpilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris   +4 more
wiley   +1 more source

Dual Inhibition of TAF1 and BET Bromodomains from the BI-2536 Kinase Inhibitor Scaffold

open access: yes, 2019
Recent reports have highlighted the dual bromodomains of TAF1 (TAF1­(1,2)) as synergistic with BET inhibition in cellular cancer models, engendering interest in TAF/BET polypharmacology.
Hyuk-Soo Seo (2649460)   +6 more
core   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

open access: yesMovement Disorders, Volume 41, Issue 8, Page 2096-2106, August 2026.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer   +15 more
wiley   +1 more source

Neuron-Specific Function of N-TAF1, the disease causative gene of Hereditary Dystonia(DYT3) [PDF]

open access: yes, 2012
科学研究費補助金研究成果報告書研究種目: 若手研究(B)研究期間: 2010~2011課題番号: 22790332研究代表者: 牧野 悟士(滋賀医科大学・分子神経科学研究センター・特任助教)遺伝性ジストニアDYT3の原因遺伝子TAF1の神経細胞特異的なアイソフォームに関して、神経細胞における役割を明らかにすることを目的として、神経系および非神経系の哺乳類培養細胞株における強制発現を行い、細胞内局在のパターンを調べた。その結果、両者の間で局在パターンに差異のあることがわかった。また、N ...
牧野, 悟士, MAKINO, Satoshi
core  

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