Browsing Tag

mechanisms of disease

Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV…

ABSTRACT Mucolipidosis type IV (MLIV) is a lysosomal disease caused by mutations in the MCOLN1 gene that encodes the endolysosomal transient receptor potential channel mucolipin-1, or TRPML1. MLIV results in developmental delay, motor and…

Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and…

ABSTRACT Mammalian transcription factor 4 (TCF4) has been linked to schizophrenia and intellectual disabilities, such as Pitt–Hopkins syndrome (PTHS). Here, we show that similarly to mammalian TCF4, fruit fly orthologue Daughterless (Da) is…

Rabbit model of Staphylococcus aureus implant-associated spinal infection [RESOURCE ARTICLE]

ABSTRACT Post-surgical implant-associated spinal infection is a devastating complication commonly caused by Staphylococcus aureus. Biofilm formation is thought to reduce penetration of antibiotics and immune cells, contributing to chronic…

Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point…

ABSTRACT Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin (FXN). Most FRDA patients are homozygous for large expansions of GAA repeat sequences…