Results 81 to 90 of about 122,656 (259)

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

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Investigations into the use of human embryonal carcinoma stem cells as a model to study dopaminergic neurogenesis [PDF]

, 2009
Parkinson's disease in reality arises as a result of a complex series of events, however it is strongly linked to the loss of a specific cellular population of midbrain dopaminergic neurons making it a candidate for stem cell based research.
Bramwell, Thomas William
core  

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Expanded characterization of the valproic acid zebrafish larval model of autism spectrum disorder: Insights into dysregulation in the gut

Animal Models and Experimental Medicine, EarlyView.
Meticulous calculation of zebrafish‐equivalent therapeutic valproic acid (VPA) dosage maximized the translational value of the data. Hyposerotonergic tone underpinned an anxiety‐like outcome as a core symptom of autism spectrum disorder (ASD). Compartment‐specific dopaminergic and serotonergic dysregulation in the brain versus gut provided mechanistic ...
Lesha Pretorius, Johanna Adriana Coetzee, Alexio Pedro dos Santos, Carine Smith   +3 more
wiley   +1 more source

Much more than their fangs: Macroscopic anatomy of the brain of Bothrops moojeni Hoge 1966 (Squamata, Serpentes, Viperidae)

The Anatomical Record, EarlyView.
Abstract Neuroanatomical research has progressed considerably in several vertebrate lineages, yet studies of reptilian brain morphology remain markedly underdeveloped. Here we provide the first description of macroscopic brain anatomy and its ontogeny in the viperid Bothrops moojeni, based on a sample of seven individuals.
Paula Araújo, Júlio César Costa de Souza, Angele Martins   +2 more
wiley   +1 more source

The Possible Neuroprotective Role of Selenium in Arsenic-Induced Midbrain Substantia Nigra Neurotoxicity in Guinea Pig Model: Biochemical and Histological Study [PDF]

The Egyptian Journal of Histology
Introduction: Arsenic (As) is one of the heavy metals and it is widely present in our environment polluting the food and water consumed by the human. Chronic exposure to As leads to arsenic toxicity that produces certain undesirable effects on the human ...
Mohamed Abdel Rahman, Hala Mohamed, Sarah Amer   +2 more
doaj   +1 more source

Redescription of the Triassic cynodont Cistecynodon parvus and reassessment of its phylogeny

The Anatomical Record, EarlyView.
Abstract Cynodontia is an important subclade of Therapsida that first occurred in the late Permian. It includes extinct subclades which are the non‐mammaliaform cynodonts and Mammaliaformes, with the latter ultimately giving rise to crown mammals. The systematics of non‐mammaliaform cynodonts has been extensively studied and is relatively well‐resolved,
Erin S. Lund, Frederik P. Wolvaardt, Roger M. H. Smith, Jaganmoy Jodder, Julien Benoit   +4 more
wiley   +1 more source

Development of the nasal capsule in Emydura subglobosa (Testudines: Pleurodira) with a comparison to other turtles

The Anatomical Record, EarlyView.
Abstract Extant turtles occupy freshwater, marine, and terrestrial habitats, and their nasal region provides important evidence for the evolution of respiration‐ and sensory‐related cranial morphology. However, developmental data on the turtle nasal capsule remain limited, particularly in Pleurodira.
Kai Ito, Paweł Kaczmarek, Taro Nojiri, María Victoria Fernandez Blanco, Ryo Kodera, Ingmar Werneburg   +5 more
wiley   +1 more source