专题:Biomedical Research and Pathophysiology

This cluster of papers focuses on nephropathic cystinosis, a rare genetic lysosomal storage disorder. The research covers various aspects including the pathogenesis, treatment with cysteamine therapy, complications in multiple organs (especially renal and ocular), molecular genetics involving CTNS gene mutations, and the impact on cellular processes such as autophagy and mitochondrial function.
最新文献
Hematopoietic Stem-Cell Gene Therapy for Cystinosis

article Full Text OpenAlex

Urinary calcium-to-citrate ratio predicts kidney stone risk in children under the age of two years

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Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening

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Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria

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Bone mineral loss damages renal tubules in mice

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Real-world outcomes of managing autosomal-dominant polycystic kidney disease using a medical food as part of a nutrition and lifestyle program to improve renal and metabolic health

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Senolytics, dasatanib plus quercetin, reduce kidney inflammation, senescent cell abundance, and injury while restoring geroprotective factors in murine diabetic kidney disease

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Advances in Pharmacological Treatments for Cystinosis: Cysteamine and Its Alternatives

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Liver Transplantation in PNPO Deficiency: Management Challenges and Biological Lessons

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Protocol for Lysosomal Hexose Enrichment in SH-SY5Y Cells v1

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近5年高被引文献
SLC7A11 expression level dictates differential responses to oxidative stress in cancer cells

article Full Text OpenAlex 275 FWCI51.834

Mitochondrial dysfunction in diabetic tubulopathy

review Full Text OpenAlex 154 FWCI20.1724

Serine Metabolism in Health and Disease and as a Conditionally Essential Amino Acid

review Full Text OpenAlex 134 FWCI16.229

Albumin uptake and processing by the proximal tubule: physiological, pathological, and therapeutic implications

review Full Text OpenAlex 118 FWCI15.8447

Glycine inhibits NINJ1 membrane clustering to suppress plasma membrane rupture in cell death

article Full Text OpenAlex 112 FWCI8.8479

Pathophysiology of mesangial expansion in diabetic nephropathy: mesangial structure, glomerular biomechanics, and biochemical signaling and regulation

review Full Text OpenAlex 108 FWCI14.5478

FGF23 and klotho at the intersection of kidney and cardiovascular disease

review Full Text OpenAlex 104 FWCI21.0409

LYC inhibits the AKT signaling pathway to activate autophagy and ameliorate TGFB-induced renal fibrosis

article Full Text OpenAlex 103 FWCI24.1916

Upregulation of TIPE1 in tubular epithelial cell aggravates diabetic nephropathy by disrupting PHB2 mediated mitophagy

article Full Text OpenAlex 102 FWCI15.9019

FFAR4 improves the senescence of tubular epithelial cells by AMPK/SirT3 signaling in acute kidney injury

article Full Text OpenAlex 100 FWCI12.9634