Results 81 to 90 of about 459 (116)

Specific Cognitive Deficits in Young Children with Cystinosis: Evidence for an Early Effect of the Cystinosin Gene on Neural Function [PDF]

The Journal of Pediatrics, 2007
Infantile nephropathic cystinosis is associated with a specific cognitive deficit in visual spatial processing in older children and adults. The cause of this deficit is unknown. This study was designed to determine whether the cognitive deficit is present in young children with cystinosis, suggesting an early effect of the genetic disorder on brain ...
Doris A, Trauner, Amy M, Spilkin, Jennifer, Williams, Lynne, Babchuck   +3 more
openaire   +2 more sources

Cfs1p, a Novel Membrane Protein in the PQ-Loop Family, Is Involved in Phospholipid Flippase Functions in Yeast

G3: Genes, Genomes, Genetics, 2017
Type 4 P-type ATPases (P4-ATPases) function as phospholipid flippases, which translocate phospholipids from the exoplasmic leaflet to the cytoplasmic leaflet of the lipid bilayer, to generate and maintain asymmetric distribution of phospholipids at the ...
Takaharu Yamamoto, Konomi Fujimura-Kamada, Eno Shioji, Risa Suzuki, Kazuma Tanaka   +4 more
doaj   +1 more source

Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy

Molecular Genetics and Metabolism Reports
Untreated nephropathic cystinosis is a lethal autosomal recessive disease. The current specific therapy, cysteamine, ameliorates the renal function loss, but does not alter the renal Fanconi syndrome, short stature, muscle weakness, male infertility, and
Jess G. Thoene
doaj   +1 more source

Disruption of a cystine transporter downregulates expression of genes involved in sulfur regulation and cellular respiration

Biology Open, 2016
Cystine and cysteine are important molecules for pathways such as redox signaling and regulation, and thus identifying cellular deficits upon deletion of the Saccharomyces cerevisiae cystine transporter Ers1p allows for a further understanding of cystine
Jessica A. Simpkins, Kirby E. Rickel, Marianna Madeo, Bethany A. Ahlers, Gabriel B. Carlisle, Heidi J. Nelson, Andrew L. Cardillo, Emily A. Weber, Peter F. Vitiello, David A. Pearce, Seasson P. Vitiello   +10 more
doaj   +1 more source

Organelle proteomic profiling reveals lysosomal heterogeneity in association with longevity

eLife
Lysosomes are active sites to integrate cellular metabolism and signal transduction. A collection of proteins associated with the lysosome mediate these metabolic and signaling functions. Both lysosomal metabolism and lysosomal signaling have been linked
Yong Yu, Shihong M Gao, Youchen Guan, Pei-Wen Hu, Qinghao Zhang, Jiaming Liu, Bentian Jing, Qian Zhao, David M Sabatini, Monther Abu-Remaileh, Sung Yun Jung, Meng C Wang   +11 more
doaj   +1 more source

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

BMC Nephrology, 2019
Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina   +7 more
doaj   +1 more source

Impact of cystinosin glycosylation on protein stability by differential dynamic SILAC

, 2017
Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by intralysosomal accumulation of cystine. The causative gene for cystinosis is CTNS, which encodes the protein cystinosin, a lysosomal proton-driven cystine transporter. Over 100 mutations have been reported, leading to varying disease severity, often in correlation with
Névo, Nathalie, Thomas, Lucie, Chhuon, Cerina, Andrzejewska, Zuzanna, Lipecka, Joanna, Guillonneau, François, Bailleux, Anne, Edelman, Aleksander, Antignac, Corinne, Guerrera, Ida Chiara   +9 more
openaire   +1 more source

Clinical, biochemical, and molecular spectrum of nephropathic cystinosis: Two novel CTNS mutations

Saudi Journal of Kidney Diseases and Transplantation
Background: Nephropathic cystinosis (NC) is an autosomal recessive disease. Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter cystinosin are identified as the molecular basis of cystinosis.
Zeinab Youssef Abdallah, Rasha Helmy, Walaa S. Nazim, Marwa M. Nabhan, Hanan Abdelaziz, Hala N. Soliman, Ahmed K. Saad, Mona Ibrahim, Amr Sobhi Gouda, Ekram Fateen, Neveen A. Soliman   +10 more
doaj   +1 more source

Hematological involvement in nephropathic cystinosis: new insights

Journal of Rare Diseases
Nephropathic cystinosis (NC) is a rare autosomal recessive lysosomal storage disease characterized by defective lysosomal efflux of cystine due to variations in the CTNS gene encoding the lysosomal cystine transporter, cystinosin.
Mona El-Ghamrawy, Neveen A. Soliman
doaj   +1 more source

Novel mechanism for tubular injury in nephropathic cystinosis

eLife
Understanding the unique susceptibility of the human kidney to pH dysfunction and injury in cystinosis is paramount to developing new therapies to preserve renal function.
Swastika Sur, Maggie Kerwin, Silvia Pineda, Poonam Sansanwal, Tara K Sigdel, Marina Sirota, Minnie M Sarwal   +6 more
doaj   +1 more source