Publications by authors named "Alexis H Bennett"
Introduction: RNA-binding proteins (RBPs) play an important role in skeletal muscle development and disease by regulating RNA splicing. In myotonic dystrophy type 1 (DM1), the RBP MBNL1 (muscleblind-like) is sequestered by toxic CUG repeats, leading to missplicing of MBNL1 targets. Mounting evidence from the literature has implicated other factors in the pathogenesis of DM1.
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- - PM20D1 is a thermogenic enzyme in mouse fat that is activated by cold temperatures and is more present in brown fat compared to white fat.
- - Thiazolidinedione (TZD) drugs increase adipocyte browning but do not stimulate PM20D1 expression in mice, while it is significantly induced in human adipocytes, highlighting a difference between species due to the presence of PPARγ binding sites.
- - Genetic variations near the PM20D1 gene impact its expression, with some SNPs linked to lower activation by PPARγ and associated with obesity and neurodegenerative diseases in humans.
Objective: To identify the genetic cause of disease in a form of congenital spinal muscular atrophy and arthrogryposis (CSMAA).
Methods: A 2-year-old boy was diagnosed with arthrogryposis multiplex congenita, severe skeletal abnormalities, torticollis, vocal cord paralysis, and diminished lower limb movement. Whole-exome sequencing (WES) was performed on the proband and family members.
Article Synopsis
- Gene expression in tissues is influenced by epigenetic, transcriptional, and post-transcriptional processes that determine cellular identity through protein production.
- A study identified DDX27, a DEAD-Box RNA helicase, as essential for growth and regeneration in skeletal muscle, suggesting its role in myogenesis.
- DDX27 is crucial for the maturation of ribosomal RNA, impacting ribosome biogenesis and the translation of specific genes in muscle development.
Golgi apparatus (GA) is a membrane-bound organelle that serves a multitude of critical cellular functions including protein secretion and sorting, and cellular polarity. Many Mendelian diseases are caused by mutations in genes encoding various components of GA. GOLGA2 encodes GM130, a necessary component for the assembly of GA as a single complex, and its deficiency has been found to result in severe cellular phenotypes.
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