Results 71 to 80 of about 98,574 (255)

Galactokinase 1 Positively Regulates Mitochondrial Respiration by Phosphorylating TIMM13 as a Protein Kinase

Advanced Science, EarlyView.
GALK1 acts as a protein kinase beyond the phosphorylation of galactose. GALK1 phosphorylates TIMM13 at Y73 in the cytoplasm. This phosphorylation prevents premature oxidative folding of TIMM13 and ensures its entrance into the intermembrane space of mitochondrion, positively regulating mitochondrial respiration.
Chang Woo Ko, Dongyoon Shin, Junho Park, June Huh, Youngsoo Kim, Jong‐Wan Park   +5 more
wiley   +1 more source

A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life

Orphanet Journal of Rare Diseases, 2018
Background Krabbe disease is a rare neurodegenerative disorder caused by a deficiency in the lysosomal enzyme galactocerebrosidase. Patients with Krabbe disease present with a variable disease course depending on their age of onset.
Nicholas Bascou, Anthony DeRenzo, Michele D. Poe, Maria L. Escolar   +3 more
doaj   +1 more source

Association of prenatal tobacco exposure and child neurodevelopment: Analysis of the ECHO cohort study

INTRODUCTION: We aimed to explore the association between exposure to prenatal tobacco exposure (PTE) in pregnant women and the neurodevelopment of infants and toddlers.
Zar, Amna, Giridhara Rathnaiah Babu, Al-Framarzi, Mashael H, Babu, Giridhara Rathnaiah, Angham Ibrahim Tartour, Elkhalaf, Albara S, Shahad A. Al-Amri*, Amna Zar, Al-Amri, Shahad A., Karen, Abdelrahman A., Tartour, Angham Ibrahim, Elkhalaf, Albara S., Almaha M. Almalki, Albara S. Elkhalaf, Abdulrahman, Aysha M., Al-Framarzi, Mashael H., Almalki, Almaha M, Abdelrahman A. Karen*, Almalki, Almaha M., Al-Amri, Shahad A, Abdulrahman, Aysha M, Mashael H. Al-Framarzi, Karen, Abdelrahman A, Aysha M. Abdulrahman   +23 more
core   +1 more source

Huntingtin Aggregate‐Responsive Autophagy Gene Circuit Mitigates Disease Pathology in R6/2 Mice

Advanced Science, EarlyView.
CD98‐mediated receptor‐mediated transcytosis enables LIP‐CD98 nanocarriers to cross the blood–brain barrier and deliver ARAA to neurons. mHTT aggregates activate the 11G–NarX sensor, initiating Auto‐P and Trans‐P signaling through the VP48–NarL relay.
Jie Zhu, Xi‐xiu Xie, Lei Li, Chen Tian, Hao‐tian Wang, Xiao‐jie Wang, Xiao‐lin Yu, Gui‐feng Zhang, Rui‐tian Liu   +8 more
wiley   +1 more source

Early‐Life Manganese Overexposure Activates Microglial Phagocytosis through the YY1/TREM2 Axis Leading to Hippocampal Synaptic Remodeling in Mice

Advanced Science, EarlyView.
Early‐life manganese exposure induces behavioral deficits and aberrant hippocampal synaptic remodeling by enhancing microglial phagocytosis in young adult male mice. Mechanistically, manganese promotes Yin Yang 1 (YY1)/triggering receptor expressed on myeloid cells 2 (TREM2) signaling through enhanced HIF1α‐mediated transcription and suppressed SMURF2 ...
Keyu Chen, Bin He, Kuan Liu, Zhuo Ma, Bin Xu   +4 more
wiley   +1 more source

Intergenerational associations in inhibitory control in FMR1 families

Frontiers in Psychiatry
Inhibitory control (IC), the capacity to resist or suppress a dominant or automatic response, is a central component of self-regulation and executive functioning.
Erin E. Hunt, Erin E. Hunt, Holley P. Arnold, Holley P. Arnold, Kaitlyn B. Cortez, Kaitlyn B. Cortez, Jane E. Roberts, Jane E. Roberts   +7 more
doaj   +1 more source

H4K12 Lactylation Impairs Dopaminergic Neuron Energy Metabolism via the HIF‐1α/NDUFS1 Pathway in Parkinson's Disease

Advanced Science, EarlyView.
Lactate and H4K12la are elevated in Parkinson's disease. Mechanistically, p300‐mediated H4K12la enrichment at the HIF‐1α promoter upregulates HIF‐1α, which represses Ndufs1, impairing mitochondrial respiration and energy homeostasis in DA neurons.
Yingyao Liu, Xi Li, Wenxuan He, Fenglin Li, Qican Ou, Yao Liu, Jiang Lei, Yanzi Bao, Huaxin Huang, Wei Feng, Yuanguang Tang, Xiaohui Qiu, Lu Gan, Yuefei Shen, Jin Wang, Yousheng Xiao   +15 more
wiley   +1 more source

Mercury, APOE, and children's neurodevelopment

, 2014
The benefit of the nutritious elements in fish is insufficient for explaining the controversial finding regarding prenatal mercury (Hg) exposure and neurodevelopment; the varying frequency of susceptible genes among these populations may shed light on ...
Ng, Sharon;Lin, Ching-Chun;Hwang, Yaw-Huei;Hsieh, Wu-Shiun;Liao, Hua-Fang;Chen, Pau-Chung, 陳保中 ;謝武勳 ;黃耀輝 ;廖華芳   +1 more
core   +1 more source

A Robust Deep Temporal Causal Discovery Platform for Single‐Cell Gene Regulatory Network Reconstruction

Advanced Intelligent Discovery, EarlyView.
scTIGER2.0 is a deep‐learning framework that infers gene regulatory networks from single‐cell RNA sequencing data. By integrating correlation, pseudotime ordering, deep learning and bootstrap‐based significance testing, it reduces false positives and reveals directional gene interactions.
Nishi Gupta, Madison Dautle, Shaoqiang Zhang, Yong Chen   +3 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source