Pathogenic mutations in the gene are associated with neurodevelopmental disorder involving the brain, liver, and lungs. We report genetic analysis of a family including two affected members with this disorder, which revealed a homozygous pathogenic missense variant, : NM_005687.4:c.853G > A:p.E285K in both affected patients. The parents were heterozygous for this variant.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9347330 | PMC |
| http://dx.doi.org/10.1002/ccr3.6195 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Decoding Salience: A Functional Magnetic Resonance Imaging Investigation of Reward and Contextual Unexpectedness in Memory Encoding and Retrieval.
Hum Brain Mapp
January 2025
Institute of Cognitive Neurology and Dementia Research, Otto-von-Guericke University, Magdeburg, Germany.
The present study investigated the neuromodulatory substrates of salience processing and its impact on memory encoding and behaviour, with a specific focus on two distinct types of salience: reward and contextual unexpectedness. 46 Participants performed a novel task paradigm modulating these two aspects independently and allowing for investigating their distinct and interactive effects on memory encoding while undergoing high-resolution fMRI. By using advanced image processing techniques tailored to examine midbrain and brainstem nuclei with high precision, our study additionally aimed to elucidate differential activation patterns in subcortical nuclei in response to reward-associated and contextually unexpected stimuli, including distinct pathways involving in particular dopaminergic modulation.
View Article and Find Full Text PDFAnti-oxidants as Therapeutic Agents for Oxidative Stress Associated Pathologies: Future Challenges and Opportunities.
Free Radic Res
January 2025
Radiation Biology & Health Sciences Division, Bio-science Group, Bhabha Atomic Research Centre, Trombay, Mumbai-400085, India.
Free radicals have been implicated in the pathogenesis of cancer along with cardiovascular, neurodegenerative, pulmonary and inflammatory disorders. Further, the relationship between oxidative stress and disease is distinctively established. Clinical trials using anti-oxidants for the prevention of disease progression have indicated some beneficial effects.
View Article and Find Full Text PDFA supercritical oil extract of seeds ameliorates Huntington's disease-like symptoms and neuropathology: the potential role of anti-oxidant and anti-inflammatory effects.
Front Pharmacol
December 2024
Department of Convergence Medical Science, College of Korean Medicine, Kyung Hee University, Seoul, Republic of Korea.
Background: Huntington disease (HD), a neurodegenerative autosomal dominant disorder, is characterized by involuntary choreatic movements with cognitive and behavioral disturbances. Up to now, no therapeutic strategies are available to completely ameliorate the progression of HD. has various pharmacologic effects such as antioxidant and anti-inflammatory activities.
View Article and Find Full Text PDFCombination of tauroursodeoxycholic acid, co-enzyme Q10 and creatine demonstrates additive neuroprotective effects in models of Parkinson's disease.
Front Neurosci
December 2024
The Neuro's Early Drug Discovery Unit (EDDU), McGill University, Montreal, QC, Canada.
This study aimed to evaluate different combinations of three dietary supplements for potential additive or synergistic effects in an Parkinson's Disease model. The complex and diverse processes leading to neurodegeneration in each patient with a neurodegenerative disorder cannot be effectively addressed by a single medication. Instead, various combinations of potentially neuroprotective agents targeting different disease mechanisms simultaneously may show improved additive or synergistic efficacy in slowing the disease progression and allowing the agents to be utilized at lower doses to minimize side effects.
View Article and Find Full Text PDFOptic nerve-mediated modulation of temporally interfering electric fields for potential targeted retinal disease therapy: a computational modeling study.
Front Neurosci
December 2024
School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, China.
Introduction: Traditional extraocular electrical stimulation typically produces diffuse electric fields across the retina, limiting the precision of targeted therapy. Temporally interfering (TI) electrical stimulation, an emerging approach, can generate convergent electric fields, providing advantages for targeted treatment of various eye conditions.
Objective: Understanding how detailed structures of the retina, especially the optic nerve, affects electric fields can enhance the application of TI approach in retinal neurodegenerative and vascular diseases, an essential aspect that has been frequently neglected in previous researches.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!