Publications by authors named "J Sarniguet"
Article Synopsis
- - DFNA68 is a rare form of hearing impairment caused by specific mutations in the HOMER2 gene, with only 5 known variants reported in families affected by this condition.
- - A new gene variation (c.1064 A > G) was discovered in a Sicilian family, leading to the production of a longer HOMER2 protein, which was shown to impact hearing negatively.
- - The research utilized zebrafish models to confirm the harmful effects of this new genetic alteration on hearing, expanding the understanding of DFNA68's genetic basis.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting upper and lower motor neurons. As a consequence, ALS patients display a locomotor disorder related to muscle weakness and progressive paralysis. Pathological mechanisms that participate in ALS involve deficient unfolded protein response, mitochondrial dysfunction and oxidative stress, among others.
View Article and Find Full Text PDFPrion diseases still remain incurable despite multiple efforts to develop a treatment. Therefore, it is important to find strategies to at least reduce the symptoms. Lithium has been considered as a neuroprotective agent for years, and the objective of this preclinical study was to evaluate the efficacy of lithium delivered as a water-in-oil microemulsion (Aonys).
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