In many types of familial amyotrophic lateral sclerosis (fALS), mutations cause proteins to gain toxic properties that mediate neurodegenerative processes. It is becoming increasingly clear that the proteins involved in ALS, and those responsible for a host of other neurodegenerative diseases, share many characteristics with a growing number of prion diseases. ALS is a heterogenous disease in which the majority of cases are sporadic in their etiology. Studies investigating the inherited forms of the disease are now beginning to provide evidence that some of this heterogeneity may be due to the existence of distinct conformations that ALS-linked proteins can adopt to produce the equivalent of prion strains. In this review, we discuss the in vitro and in vivo evidence that has been generated to better understand the characteristics of these proteins and how their tertiary structure may impact the disease phenotype.
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http://dx.doi.org/10.1007/s00401-020-02222-x | DOI Listing |
Adv Mater
January 2025
State Key Laboratory of Systems Medicine for Cancer, Shanghai Cancer Institute. Ren Ji Hospital School of Medicine, Shanghai Jiao Tong University, Shanghai, 200032, P. R. China.
Hypoxia severely limits the antitumor immunotherapy for breast cancer. Although efforts to alleviate tumor hypoxia and drug delivery using diverse nanostructures achieve promising results, the creation of a versatile controllable oxygen-releasing nano-platform for co-delivery with immunostimulatory molecules remains a persistent challenge. To address this problem, a versatile oxygen controllable releasing vehicle PFOB@F127@PDA (PFPNPs) is developed, which effectively co-delivered either protein drug lactate oxidase (LOX) or nucleic acids drug unmethylated cytosine-phosphate-guanine oligonucleotide (CpG ODNs).
View Article and Find Full Text PDFFront Pediatr
January 2025
Henan Provincial Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Objective: Our study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.
Methods: Prenatal samples, including amniotic fluid and chorionic villus samples, were obtained by amniocentesis and chorionic villus sampling at our center, respectively.
Front Genet
January 2025
Center of Cellular and Genetic Science, Henan Academy of Sciences, Zhengzhou, China.
High-altitude adaptation is a remarkable example of natural selection, yet the genomic and physiological adaptation mechanisms of Ethiopian highlanders remain poorly understood compared to their Andean and Tibetan counterparts. Ethiopian populations, such as the Amhara and Oromo, exhibit unique adaptive strategies characterized by moderate hemoglobin levels and enhanced arterial oxygen saturation, indicating distinct mechanisms of coping with chronic hypoxia. This review synthesizes current genomic insights into Ethiopian high-altitude adaptation, identifying key candidate genes involved in hypoxia tolerance and examining the influence of genetic diversity and historical admixture on adaptive responses.
View Article and Find Full Text PDFFront Immunol
January 2025
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Background And Objective: Neurobrucellosis is a rare neurological disorder characterized by diverse clinical manifestations. Although several relevant cases were reported, our understanding of this disorder is limited. In this study, we presented the clinical and imaging characteristics of four cases of neurobrucellosis.
View Article and Find Full Text PDFDifferences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular hormones, leading to varying degrees of under-virilization. A 19-year-old phenotypically normal female from Kakamega, Kenya, presented with primary amenorrhea.
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