Results 91 to 100 of about 459 (116)

A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients

Pharmaceuticals
Cystinosis is a rare lysosomal storage disorder caused by autosomal recessive mutations in the CTNS gene that encodes for the cystine transporter cystinosin, which is expressed on the lysosomal membrane mediating the efflux of cystine.
Raffaele Simeoli, Sara Cairoli, Marcella Greco, Francesco Bellomo, Alessandro Mancini, Chiara Rossi, Carlo Dionisi Vici, Francesco Emma, Bianca Maria Goffredo   +8 more
doaj   +1 more source

Unveiling cystinosis in India

Journal of Rare Diseases
Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor, Anshuman Verma, Divya Sree Achanta, Deepak Paul Edward, Muralidhar Ramappa   +4 more
doaj   +1 more source

Structural & functional studies on cystinosin, the proton-coupled cystine transporter

The lysosome is a major signalling centre within the cell and an important regulator of metabolism through its regulation of mTORC1 activity. A key function of the lysosome is to degrade proteins to their constituent amino acids and export these to the cytoplasm for metabolic recycling or sensing. In comparison to amino acid transport across the plasma
openaire   +2 more sources

Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis

Frontiers in Immunology
Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
Marianna Nicoletta Rossi, Marianna Nicoletta Rossi, Valentina Matteo, Francesca Diomedi-Camassei, Ester De Leo, Olivier Devuyst, Mohamed Lamkanfi, Ivan Caiello, Elena Loricchio, Francesco Bellomo, Anna Taranta, Francesco Emma, Fabrizio De Benedetti, Giusi Prencipe   +13 more
doaj   +1 more source

CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants

Advanced Biomedical Research
Background: Nephropathic cystinosis (NC) is an uncommon autosomal recessive disease with abnormality in lysosomal storage that appearances in patients with mutations in the CTNS gene encoding a lysosomal transporter cystinosin. Disrupted function of this
Zahra Mohammadi Chermahini, Mansoor Salehi, Alaleh Gheissari, Faeze Ahmadi Beni, Farinaz Khosravian, Mohammad Kazemi   +5 more
doaj   +1 more source

Targeting oxidative stress-induced lipid peroxidation enhances podocyte function in cystinosis

Journal of Translational Medicine
Background Cystinosis is a rare, incurable lysosomal storage disease caused by mutations in the CTNS gene encoding the cystine transporter cystinosin, which leads to lysosomal cystine accumulation in all cells of the body.
Sante Princiero Berlingerio, Tjessa Bondue, Sarah Tassinari, Florian Siegerist, Angela Ferrulli, Celien Lismont, Sara Cairoli, Bianca Maria Goffredo, Bart Ghesquière, Marc Fransen, Nicole Endlich, Fanny Oliveira Arcolino, Benedetta Bussolati, Lambertus van den Heuvel, Elena Levtchenko   +14 more
doaj   +1 more source

Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling.

Journal of the American Society of Nephrology, 2016
Zuzanna Andrzejewska, N. Névo, Lucie Thomas, C. Chhuon, A. Bailleux, Véronique Chauvet, P. Courtoy, Marie Chol, I. Guerrera, C. Antignac   +9 more
semanticscholar   +1 more source

[Cystinosis: from cystine crystals to the cystinosin].

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2003
openaire   +1 more source

Oh cystinosin: let me count the ways!

Kidney International, 2019
Nephropathic cystinosis is the most common genetic cause of a renal Fanconi syndrome and results from dysfunction of the lysosomal cystine-transporter protein cystinosin. The multiple organ dysfunctions of affected patients were thought to be related to the defective protein, with cystine crystal formation.
C. Langman
openaire   +3 more sources

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Lysosomal Targeting of Cystinosin Requires AP‐3

Traffic, 2015
Cystinosin is a lysosomal cystine transporter defective in cystinosis, an autosomal recessive lysosomal storage disorder. It is composed of seven transmembrane (TM) domains and contains two lysosomal targeting motifs: a tyrosine‐based signal (GYDQL) in its C‐terminal tail and a non‐classical motif in its fifth inter‐TM loop.
Andrzejewska, Zuzanna, Névo, Nathalie, Thomas, Lucie, Bailleux, Anne, Chauvet, Véronique, Benmerah, Alexandre, Antignac, Corinne   +6 more
openaire   +4 more sources