Cystinosis

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins.

<p><b>BACKGROUND</b></p><p>Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys. Advances in renal transplantation, cysteamine treatment and improved medical care have increased life expectancy,...

๐Ÿ—“๏ธ 2025-11-10
๐Ÿ“ฐ Publication: Journal Of Cachexia Sarcopenia And Muscle
Read MoreAn Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins.

Leptin signalling altered in infantile nephropathic cystinosis-related bone disorder.

The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations. C57BL/6 Ctns mice are an animal model for studying INC. Hyperleptinaemia results from the kidney's inability...

๐Ÿ—“๏ธ 2024-08-29
๐Ÿ“ฐ Publication: Journal Of Cachexia Sarcopenia And Muscle
Read MoreLeptin signalling altered in infantile nephropathic cystinosis-related bone disorder.

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