Results 11 to 20 of about 5,039 (197)
Cells, 2021 Cystinosis is a rare inheritable lysosomal storage disorder characterized by cystine accumulation throughout the body, chronic kidney disease necessitating renal replacement therapy mostly during adolescence, and multiple extra-renal complications.
Ahmed Reda +2 more
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A Personal History of Cystinosis by Dr. Jerry Schneider [PDF]
Cells, 2022 Cystinosis is a rare lysosomal storage disease that is tightly linked with the name of the American physician and scientist Dr. Jerry Schneider. Dr. Schneider (1937–2021) received his medical degree from Northwestern University, followed by a pediatrics ...
Jerry Schneider, Elena Levtchenko
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Untangling Traffic Jams: RAB11FIP4 Orchestrates Cellular Recovery in Cystinosis [PDF]
Autophagy ReportsRAB11FIP4 (RAB11 family interacting protein 4), a RAB11A (Ras-related protein Rab-11) effector protein downregulated in cystinosis, plays a crucial role in cellular trafficking.
Mouad Ait Kbaich +2 more
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Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies [PDF]
Cells, 2022 The activation of several inflammatory pathways has recently been documented in patients and different cellular and animal models of nephropathic cystinosis.
Mohamed A. Elmonem +2 more
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Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
Frontiers in Pediatrics, 2018 Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body ...
Sören Bäumner, Lutz T. Weber
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Journal of Rare DiseasesBackground Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor +4 more
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Cell therapy for cystinosis [PDF]
Nephrology Dialysis Transplantation, 2010 In the September 2009 issue of Blood, Syres et al. [1] report on syngeneic bone marrow cell (BMC) and haematopoietic stem cell (HSC) therapy as a successful treatment in a mouse model of cystinosis, an autosomal recessive metabolic disease caused by a defect in the transport of cystine across the lysosomal membrane. The accumulation of cystine crystals
Terryn, S., Devuyst, O., Antignac, C.
openaire +3 more sources
Nephropathic Cystinosis : First reported case in Oman [PDF]
Sultan Qaboos University Medical Journal, 2011 Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations.
Dana Al-Nabhani +5 more
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, 2018 Cystinosis is a rare autosomal recessive disease caused by mutations in the lysosomal cystine transporter cystinosin encoded by the CTNS gene (17p.13.2). Cystinosis is characterized by lysosomal cystine accumulation throughout the body with renal Fanconi syndrome being the most common presenting symptom of a multisystem disorder.
Elena N. Levtchenko, Mirian C. Janssen
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Fertility Management in Cystinosis: A Clinical Perspective [PDF]
Kidney International ReportsCystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ.
Craig B. Langman +5 more
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