# Biomedical Research and Pathophysiology

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/biomedical-research-and-pathophysiology/

## Facts

| Field | Value |
| --- | --- |
| Description | 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. |
| Domain | Health Sciences |
| Field | Medicine |
| OpenAlex ID | t14415 |
| Works | 125 |

## Topic papers all

Showing 15 of 125.

- [Fibroblast growth factor 23 is elevated before parathyroid hormone and phosphate in chronic kidney disease](https://scholariq.org/papers/fibroblast-growth-factor-23-is-elevated-before-parathyroid-hormone-and-phosphate/)
- [Renal tubule injury: a driving force toward chronic kidney disease](https://scholariq.org/papers/renal-tubule-injury-a-driving-force-toward-chronic-kidney-disease/)
- [The Polycystic Kidney Disease Proteins, Polycystin-1, Polycystin-2, Polaris, and Cystin, Are Co-Localized in Renal Cilia](https://scholariq.org/papers/the-polycystic-kidney-disease-proteins-polycystin-1-polycystin-2-polaris-and/)
- [Polycystic Kidney Disease](https://scholariq.org/papers/polycystic-kidney-disease/)
- [The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease](https://scholariq.org/papers/the-mtor-pathway-is-regulated-by-polycystin-1-and-its-inhibition-reverses-renal/)
- [A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis](https://scholariq.org/papers/a-novel-gene-encoding-an-integral-membrane-protein-is-mutated-in-nephropathic/)
- [Agalsidase-Beta Therapy for Advanced Fabry Disease](https://scholariq.org/papers/agalsidase-beta-therapy-for-advanced-fabry-disease/)
- [Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat](https://scholariq.org/papers/treatment-of-fabry-s-disease-with-the-pharmacologic-chaperone-migalastat/)
- [Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1](https://scholariq.org/papers/lumasiran-an-rnai-therapeutic-for-primary-hyperoxaluria-type-1/)
- [Defective glucose metabolism in polycystic kidney disease identifies a new therapeutic strategy](https://scholariq.org/papers/defective-glucose-metabolism-in-polycystic-kidney-disease-identifies-a-new/)
- [Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease](https://scholariq.org/papers/mutations-in-ganab-encoding-the-glucosidase-ii-subunit-cause-autosomal-dominant/)
- [Autophagy Protects the Proximal Tubule from Degeneration and Acute Ischemic Injury](https://scholariq.org/papers/autophagy-protects-the-proximal-tubule-from-degeneration-and-acute-ischemic/)
- [Kidney Stones and the Risk for Chronic Kidney Disease](https://scholariq.org/papers/kidney-stones-and-the-risk-for-chronic-kidney-disease/)
- [Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase β Therapy in Patients with Fabry Disease](https://scholariq.org/papers/sustained-long-term-renal-stabilization-after-54-months-of-agalsidase-therapy-in/)
- [Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin](https://scholariq.org/papers/nephrocystin-5-a-ciliary-iq-domain-protein-is-mutated-in-senior-loken-syndrome/)

## Topic primary papers

- [A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis](https://scholariq.org/papers/a-novel-gene-encoding-an-integral-membrane-protein-is-mutated-in-nephropathic/)
- [Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study](https://scholariq.org/papers/long-term-outcome-of-hurler-syndrome-patients-after-hematopoietic-cell/)
- [Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2](https://scholariq.org/papers/endoplasmic-reticulum-stress-drives-proteinuria-induced-kidney-lesions-via/)
- [Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature](https://scholariq.org/papers/ophthalmic-manifestations-and-histopathology-of-infantile-nephropathic/)
- [Urinary enzymes in acute renal failure](https://scholariq.org/papers/urinary-enzymes-in-acute-renal-failure/)
- [Quality of Life is Improved and Kidney Function Preserved in Patients with Nephropathic Cystinosis Treated for 2 Years with Delayed-Release Cysteamine Bitartrate](https://scholariq.org/papers/quality-of-life-is-improved-and-kidney-function-preserved-in-patients-with/)
- [Sodium Selenite inhibits mitophagy, downregulation and mislocalization of blood-testis barrier proteins of bovine Sertoli cell exposed to microcystin-leucine arginine (MC-LR) via TLR4/NF-kB and mitochondrial signaling pathways blockage](https://scholariq.org/papers/sodium-selenite-inhibits-mitophagy-downregulation-and-mislocalization-of-blood/)
- [Microcystin-LR Induces Ceramide to Regulate PP2A and Destabilize Cytoskeleton in HEK293 Cells](https://scholariq.org/papers/microcystin-lr-induces-ceramide-to-regulate-pp2a-and-destabilize-cytoskeleton-in/)
- [Clinical approach to renal tubular acidosis in children](https://scholariq.org/papers/clinical-approach-to-renal-tubular-acidosis-in-children/)
- [Ocular Involvement in Patients with Infantile Nephropathic Cystinosis](https://scholariq.org/papers/ocular-involvement-in-patients-with-infantile-nephropathic-cystinosis/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.