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http://dx.doi.org/10.1016/j.bbadis.2024.167126 | DOI Listing |
Brain Dev
September 2025
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Japan.
Hypomyelinating leukodystrophies (HLDs) are a group of inherited disorders characterized by impaired myelin formation in the central nervous system. Among them, Pelizaeus-Merzbacher disease (PMD) is a well-defined X-linked leukodystrophy caused by mutations in the PLP1 gene, including duplications, missense variants, and null mutations. Recent studies have revealed that different types of PLP1 mutations lead to distinct pathomechanisms: while missense mutations induce endoplasmic reticulum stress and activate the unfolded protein response (UPR), PLP1 duplications cause aberrant intracellular trafficking and cholesterol accumulation without UPR activation.
View Article and Find Full Text PDFFront Plant Sci
August 2025
Rice Science Center, Kasetsart University, Nakhon Pathom, Thailand.
Introduction: Rice is mainly consumed by half of the world's population. The imminent climate change and population growth expected in the next 30 years will outpace the current rice production capacity, posing risks to food and nutrition security in developing nations. One simplified approach to address this challenge is to improve photosynthetic capacity by increasing chlorophyll content in leaves and stems.
View Article and Find Full Text PDFHum Genome Var
September 2025
Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.
Here we report a heterozygous missense variant in the ACTB gene, NM_001101.5:c.209C>T (p.
View Article and Find Full Text PDFPathol Res Pract
October 2025
State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia, The Affiliated Cancer Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830000, China.. Electronic address:
The incidence of esophageal squamous cell carcinoma (ESCC) is increasing globally. Notably, in Xinjiang, China, ESCC patients have garnered significant attention due to their unique epidemiological characteristics. Specifically, the mortality rate of Xinjiang Kazakh ESCC (referred to as XK ESCC) is substantially higher than the national average in China.
View Article and Find Full Text PDFFASEB J
August 2025
Department of Cell and Developmental Biology, Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Inherited Parkinson's disease (PD) often involves missense mutations in the PRKN2 gene, encoding for Parkin protein. The PDR-1 protein is the C. elegans ortholog of human Parkin.
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