The genetic ataxias have no cures and no proven ways to delay progression (no disease-modifying therapies). The acquired ataxias may have treatments that address the underlying cause and may slow or stop progression, but will not reverse damage already sustained. The idiopathic ataxias (of unknown genetic or acquired cause) also have no proven disease-modifying therapies. However, for all patients with ataxia of any cause, there is always something that can be done to improve quality of life-treat associated symptoms, provide information and resources, counsel patient and family, help with insurance and disability concerns, be available to listen and answer the many questions they will have.
Sunday, June 2, 2024
CRPD frontiers in movement disorders Therapeutics: From evidence to treatment and applications: Addressing Patients' Needs in the Management of the Ataxias
Perlman SL. CRPD frontiers in movement disorders Therapeutics: From evidence to treatment and applications: Addressing Patients' Needs in the Management of the Ataxias. Clinical Parkinsonism & Related Disorders. 2024 ;10:100255. DOI: 10.1016/j.prdoa.2024.100255. PMID: 38798918; PMCID: PMC11126860.
Requirements for the biogenesis of [2Fe-2S] proteins in the human and yeast cytosol
Braymer JJ, Stehling O, Stümpfig M, et al. Requirements for the biogenesis of [2Fe-2S] proteins in the human and yeast cytosol. Proceedings of the National Academy of Sciences of the United States of America. 2024 May;121(21):e2400740121. DOI: 10.1073/pnas.2400740121. PMID: 38743629; PMCID: PMC11126956.
The most critical GSH requirement was assigned to Atm1-dependent export, i.e. a step before GSH-dependent cGrxs function. Our findings extend the general model of eukaryotic Fe/S protein biogenesis by adding the molecular requirements for cytosolic [2Fe-2S] protein maturation.
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