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portada Cellular and Molecular Mechanisms of Nephropathic Cystinosis
Type
Physical Book
Illustrated by
Publisher
Author
Language
English
Pages
230
Format
Hardcover
Dimensions
24.4x17x1.9 cm
Weight
0.70 kg.
ISBN13
9783036545684
Categories

Cellular and Molecular Mechanisms of Nephropathic Cystinosis

Elena N. Levtchenko (Illustrated by) · Mdpi AG · Hardcover

Cellular and Molecular Mechanisms of Nephropathic Cystinosis - Levtchenko, Elena N.

New Book Imported to Austria
Delivery: 17 Nov - 19 Nov Shipping: 6 to 7 business days.
86,61 €
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Synopsis "Cellular and Molecular Mechanisms of Nephropathic Cystinosis "

Nephropathic cystinosis (MIM # 219800) is a rare autosomal recessive disorder caused by mutations in the lysosomal cystine transporter cystinosin, encoded by the CTNS gene (17p13.2). This devastating condition initially affects kidneys and subsequently many other organs including eyes, thyroid, pancreas, muscles, and brain. While lysosomal cystine storage is a key feature of the disease and the main target of current therapy, recent groundbreaking research has revealed that cystinosin has diverse functions in cells, being involved in vesicle trafficking, energy homeostasis, and cell death mechanisms. These discoveries deepen our insights into the mechanisms of cystinosis and of lysosomal biology in general. In this Special Issue dedicated to the pioneer of cystinosis research Dr. Jerry Schneider, we highlight the state-of-the-art understanding of cellular and molecular mechanisms of various disease features, opening new horizons for innovative treatment strategies for cystinosis and potentially other lysosomal storage diseases.

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