Rare Diseases

Current bibliography for experts

"Protein Trafficking" search results...

CSID

Severe pathogenic variants of intestinal sucrase-isomaltase interact avidly with the wild type enzyme and negatively impact its function and trafficking

2022-11-01

This study provides novel insights into the potential role of heterozygosity in the pathophysiology of congenital sucrase-isomaltase deficiency and irritable bowel syndrome.

CSID

Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome

2020-12-22

In genetic screening of IBS patients, it is discovered that rare sucrase-isomaltase (SI) gene variants are associated with IBS. The findings of this article emphasize the importance of screening for SI mutations in IBS patients and considering enzyme replacement therapy as an appropriate treatment option, similar to CSID.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

8th Neuromuscular Diseases Congress

The 8th Neuromuscular Diseases Congress will be organized by the Neuromuscular Diseases Research Association between Sep...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

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Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...