Results 41 to 50 of about 2,800 (183)

Structural and molecular characterization of paraventricular thalamic glucokinase‐expressing neuronal circuits in the mouse

Journal of Comparative Neurology, Volume 530, Issue 11, Page 1773-1949, August 2022., 2022
By using a genetically modified mouse model and viral tracing approaches, we mapped both the anterograde and the retrograde projections of a subpopulation of neurons in the anterior paraventricular thalamic nucleus, molecularly defined by the expression of glucokinase (GckaPVT).
Sevasti Gaspari, Simon Quenneville, Ana Rodriguez Sanchez‐Archidona, Bernard Thorens, Sophie Croizier   +4 more
wiley   +1 more source

Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 183-191, March 2022., 2022
Abstract Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disease caused by biallelic mutations in the cystinosin gene, leading to cystine accumulation in various organs. The aim of this cross‐sectional study was to investigate neuromuscular complications in a cohort of 55 patients (aged 2.8‐41.3 years, median 18.5 years) with INC ...
Katharina Vill, Wolfgang Müller‐Felber, Timotheus Landfarth, Christian Köppl, Nadine Herzig, Christine Knerr, Heike Holla, Günther Steidle, Erik Harms, Katharina Hohenfellner, the Interdisciplinary Cystinosis Group   +10 more
wiley   +1 more source

Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 192-202, March 2022., 2022
Abstract Children with infantile nephropathic cystinosis (INC), an inherited lysosomal storage disease resulting in cystine accumulation in all body cells, are prone to progressive chronic kidney disease (CKD), impaired growth and reduced weight gain; however, systematic anthropometric analyses are lacking.
Rika Kluck, Sophia Müller, Celina Jagodzinski, Katharina Hohenfellner, Anja Büscher, Markus J. Kemper, Jun Oh, Heiko Billing, Julia Thumfart, Lutz T. Weber, Birgit Acham‐Roschitz, Klaus Arbeiter, Burkhard Tönshoff, Martina Hagenberg, Nele Kanzelmeyer, Leo Pavičić, Dieter Haffner, Miroslav Zivicnjak   +17 more
wiley   +1 more source

Bioengineered Cystinotic Kidney Tubules Recapitulate a Nephropathic Phenotype

Cells, 2022
Nephropathic cystinosis is a rare and severe disease caused by disruptions in the CTNS gene. Cystinosis is characterized by lysosomal cystine accumulation, vesicle trafficking impairment, oxidative stress, and apoptosis. Additionally, cystinotic patients
Elena Sendino Garví, Rosalinde Masereeuw, Manoe J. Janssen   +2 more
doaj   +1 more source

Investigating the pathophysiology and potential therapeutic approaches for nephropathic cystinosis [PDF]

, 2021
Nephropathic cystinosis is an autosomal recessive monogenic kidney disorder characterized by lysosomal accumulation of cystine throughout the body, causing organ damage, particularly the kidneys.
Jamalpoor, Amer
core   +1 more source

Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation

Indian Journal of Pathology and Microbiology, 2019
Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai, Shibu Jacob, Mandeep S Bindra, Vinoi George David, Santosh Varughese   +4 more
doaj   +1 more source

Neurological impairment in nephropathic cystinosis: motor coordination deficits [PDF]

, 2010
Nephropathic cystinosis is a rare genetic metabolic disorder that results in accumulation of the amino acid cystine in lysosomes due to lack of a cystine-specific transporter protein.
John Hesselink, Crowhurst, Jennifer, Doris A. Trauner, Jennifer Crowhurst, Ballantyne, Angela O., Angela O. Ballantyne, Amy M. Spilkin, Jennifer Williams, Trauner, Doris A., Williams, Jennifer, Spilkin, Amy M., Hesselink, John   +11 more
core   +1 more source

Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis. [PDF]

, 2020
Nephropathic cystinosis is a rare lysosomal storage disorder caused by mutations in CTNS gene leading to Fanconi syndrome. Independent studies reported defective clearance of damaged mitochondria and mitochondrial fragmentation in cystinosis.
Bellomo F., De Leo E, Emma F, Signorile A, Raso R, Polishchuk R, Polishchuk EV, De Rasmo D, Ferretta A, Russo S   +9 more
core   +2 more sources

Infantile Nephropathic Cystinosis Presenting as Bartter-like Syndrome in Infancy: A Case Report with CTNS Gene Variant [PDF]

Journal of Clinical and Diagnostic Research
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, leading to cystine accumulation and multiorgan involvement.
Elakeya Elumalai Saraswaty, Shivaashankari Dharmalingam, Shanmugam Muthukrishnan, Ajay Subramanian   +3 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