Results 31 to 40 of about 459 (116)
Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea
Molecular Genetics and Metabolism Reports, 2020 Therapeutic use of transmembrane proteins is limited because of irreversible denaturation when away from their native lipid membrane. Mutations in lysosomal membrane transport proteins cause many lethal disorders including cystinosis which results from ...
Jess G. Thoene +2 more
doaj +1 more source
Cysteamine–bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis
EMBO Molecular Medicine, 2021 Nephropathic cystinosis is a severe monogenic kidney disorder caused by mutations in CTNS, encoding the lysosomal transporter cystinosin, resulting in lysosomal cystine accumulation. The sole treatment, cysteamine, slows down the disease progression, but
Amer Jamalpoor +21 more
doaj +1 more source
Chaperone‐mediated autophagy: Molecular mechanisms, biological functions, and diseases
MedComm, Volume 4, Issue 5, October 2023., 2023 Chaperone‐mediated autophagy (CMA) is a lysosomal protein degradation pathway distinct from macroautophagy and microautophagy. CMA is regulated by signaling pathways and is involved in the maintenance of physiological functions, and its dysfunction is associated with a range of diseases.
Ruchen Yao, Jun Shen
wiley +1 more source
ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine
The Journal of Clinical Investigation, 2023 Cystinosis is a lysosomal storage disease that is characterized by the accumulation of dipeptide cystine within the lumen. It is caused by mutations in the cystine exporter, cystinosin.
Varsha Venkatarangan +5 more
doaj +1 more source
The Concise Guide to PHARMACOLOGY 2023/24: Transporters
British Journal of Pharmacology, Volume 180, Issue S2, Page S374-S469, October 2023., 2023 The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000 interactions with about 3900 ligands. There is an emphasis on selective pharmacology (where available), plus links
Stephen P. H. Alexander +27 more
wiley +1 more source
Fibrosing Colonopathy Presenting in a Patient with Cystinosis
JPGN Reports, Volume 4, Issue 3, August 2023., 2023 Abstract Fibrosing colonopathy is a unique pathology characterized by long segment stricture, usually of the ileocecal region. Historically, it is most commonly described in patients with cystic fibrosis (CF). Fibrosing colonopathy is felt to be secondary to excessive doses of exogenous lipase medication.
Dominic Fiore +3 more
wiley +1 more source
Molecular Ecology, Volume 32, Issue 15, Page 4412-4426, August 2023., 2023 Abstract Parasites with complex life cycles are known to induce phenotypic changes in their intermediate hosts to increase transmission to the final host. The magnitude of these changes could increase with the number of parasites, which would be beneficial to co‐infecting parasites. Yet, adverse effects of high parasite load (i.e.
Tom Sistermans +4 more
wiley +1 more source
Diesel exhaust particles alter gut microbiome and gene expression in the bumblebee Bombus terrestris
Ecology and Evolution, Volume 13, Issue 6, June 2023., 2023 Here we studied if airborne particulate matter from traffic is a potential driver of insect decline. We exposed workers of the bumblebee Bombus terrestris to sublethal doses of diesel exhaust particles and brake dust, orally or via air. Oral exposure to diesel exhaust particles changed microbiome composition and altered gene expression. Abstract Insect
Dimitri Seidenath +9 more
wiley +1 more source
mTOR signaling in renal ion transport
Acta Physiologica, Volume 238, Issue 1, May 2023., 2023 Abstract The mammalian target of rapamycin (mTOR) signaling pathway is crucial in maintaining cell growth and metabolism. The mTOR protein kinase constitutes the catalytic subunit of two multimeric protein complexes called mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2).
Anastasia Adella, Jeroen H. F. de Baaij
wiley +1 more source
Health‐related quality of life and patient‐reported outcome measurements in patients with cystinosis
JIMD Reports, Volume 64, Issue 2, Page 199-211, March 2023., 2023 Abstract Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder. With the availability of treatment and renal replacement therapy, nephropathic cystinosis has evolved from an early fatal disease to a chronic, progressive disorder with potentially high impairment. We aim to review the literature on the health‐related quality of
Stefanie Witt +3 more
wiley +1 more source