Associated Papers
Genetic landscape of hereditary cardiomyopathies and arrhythmias in China.
Lu Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives.
Adella A et al.
Kidney International Reports, 2025
A zebrafish model to study RRAGD variants associated cardiomyopathy.
Sambri I et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2024
RRAGD variants cause cardiac dysfunction in a zebrafish model.
Adella A et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2024
Ragopathies and the rising influence of RagGTPases on human diseases.
Sambri I et al.
Nature Communications, 2024
Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant.
de Frutos F et al.
Circulation. Genomic and Precision Medicine, 2024
RRAGD-Associated Autosomal Dominant Kidney Hypomagnesemia with Cardiomyopathy: A Review on the Clinical Manifestations and Therapeutic Options.
Trepiccione F et al.
Kidney & Blood Pressure Research, 2024
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.
Sambri I et al.
Nature Communications, 2023
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Magallón-Lorenz M et al.
Iscience, 2023
36818284 (PubMed )
Supplement: mmc2.xlsx › STS-26T
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann KP et al.
Journal of the American Society of Nephrology : Jasn, 2021
Amino acids activate mammalian target of rapamycin (mTOR) complex 1 without changing Rag GTPase guanyl nucleotide charging.
Oshiro N et al.
The Journal of Biological Chemistry, 2014
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