Publications by authors named "F Biella"
Introduction: related congenital myopathy is an emerging recently described entity. In this report we describe 2 sisters with mutations in the gene and the novel phenotype of congenital myopathy and infantile onset episodic weakness.
Clinical Description: Both sisters had neonatal onset hypotonia, muscle weakness, and delayed walking.
Article Synopsis
- - The study investigates coenzyme Q (CoQ) deficiency in patients with unexplained cerebellar ataxia, aiming to identify genetic variants and measure CoQ levels through whole-exome sequencing (WES) and biochemical assays.
- - Out of 16 patients, a genetic cause was found in 50% (8 patients), revealing both known and novel pathogenic variants linked to CoQ biosynthesis and cerebellar ataxia.
- - The findings highlight gene mutations as significant contributors to cerebellar ataxia and CoQ deficiency, suggesting that these mutations could cause a secondary form of CoQ deficiency.
Article Synopsis
- Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease mainly affecting motor neurons, with only 10% of cases being inherited.
- The study analyzed microRNA (miRNA) expression in motor neurons and exosomes from both familial ALS patients and healthy controls, revealing specific miRNAs (miR-34a, miR-335, and miR-625-3p) that were dysregulated and linked to the disease's progression.
- Additionally, significant changes in the levels of miR-34a-3p and miR-625-3p were found in the cerebrospinal fluid of patients, suggesting that examining miRNA across different biological samples could enhance our understanding of ALS and support
In this work, we describe the association of a novel homozygous VPS11 variant with adult-onset generalized dystonia, providing a detailed clinical report and biological evidence of disease mechanism. Vps11 is a subunit of the homotypic fusion and protein sorting (HOPS) complex, which promotes the fusion of late endosomes and autophagosomes with the lysosome. Functional studies on mutated fibroblasts showed marked lysosomal and autophagic abnormalities, which improved after overexpression of the wild type Vps11 protein.
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