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Elovl1 inhibition reduced very long chain fatty acids in a mouse model of adrenoleukodystrophy.
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Adrenoleukodystrophy (ALD) is a rare neurometabolic disease caused by mutations in the gene, which encodes for the peroxisomal very long chain fatty acid (VLCFA) transporter. It is a debilitating disorder, which has a spectrum of clinical presentations. Since the accumulation of VLCFAs are a common feature of all ALD pathologies, we developed a substrate reduction therapy for ALD in the form of an inhibitor of Elovl1, the lipid elongase responsible for the generation of VLCFAs.
View Article and Find Full Text PDFMaturity-onset diabetes of the young type 10 (MODY10) is a monogenic diabetes subtype caused by heterozygous mutations in the insulin gene (), leading to defective proinsulin processing, endoplasmic reticulum (ER) stress, and β-cell dysfunction. Current management relies on sulfonylureas or insulin therapy, but these fail to address the underlying genetic defect. Recent research has elucidated the molecular mechanisms of MODY10, including ER stress induced by proinsulin misfolding, activation of the unfolded protein response (UPR), and β-cell apoptosis.
View Article and Find Full Text PDFCoRRECT: A Deep Unfolding Framework for Motion-Corrected Quantitative R2* Mapping.
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View Article and Find Full Text PDFA Stepwise Management Strategy for Treatment of Iatrogenic Upper Eyelid Retraction in Eastern Asian Eyelids.
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Department of Plastic and Reconstructive Surgery, The Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Doctor's Office, 16th Floor of the First Building, 639 Zhi Zao Ju Road, Shanghai, People's Republic of China.
Background: Incidence of iatrogenic upper eyelid retraction (UER) caused by blepharoptosis overcorrection and improper blepharoplasty is increasing fast among Eastern Asians. The aim of this study is to present our experience using techniques of pretarsal cicatrix release, recession of levator-Müller's muscle complex, and lengthening of levator-Müller's muscle complex to correct mild to severe UER, and evaluate their anesthetic surgical outcomes.
Methods: Patients with UER who underwent surgical repair using the stepwise management strategy from December 2018 to June 2022 were retrospectively reviewed.