Results 121 to 130 of about 30,962 (231)

c-Abl/TFEB Pathway Activation as a Common Pathogenic Mechanism in Lysosomal Storage Diseases: Therapeutic Potential of c-Abl Inhibitors

Antioxidants
Lysosomal storage diseases (LSDs) are characterized by the accumulation of undegraded substrates within lysosomes, often associated with oxidative stress and impaired lysosomal function. In this study, we investigate the role of the c-Abl/TFEB pathway in
Miguel V. Guerra, Juan Castro, Antonio Moreno, Elisa Balboa, Juan J. Marugan, Alejandra R. Alvarez, Silvana Zanlungo   +6 more
doaj   +1 more source

Genetic and laboratory diagnostic approach in Niemann Pick disease type C [PDF]

, 2014

core   +1 more source

Glycosphingolipids are linked to elevated neurotransmission and neurodegeneration in a Drosophila model of Niemann Pick type C. [PDF]

Dis Model Mech, 2023
Eberwein AE, Kulkarni SS, Rushton E, Broadie K.   +3 more
europepmc   +1 more source

Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders. [PDF]

Orphanet J Rare Dis, 2023
Morin A, Carle G, Ponchel A, Fernández-Eulate G, Nadjar Y.   +4 more
europepmc   +1 more source

Niemann-Pick disease type C [PDF]

, 2020
openaire   +3 more sources

Identification and characterization of protein interactions with the major Niemann-Pick type C disease protein in yeast reveals pathways of therapeutic potential. [PDF]

Genetics, 2023
Hammond N, Snider J, Stagljar I, Mitchell K, Lagutin K, Jessulat M, Babu M, Teesdale-Spittle PH, Sheridan JP, Sturley SL, Munkacsi AB.   +10 more
europepmc   +1 more source

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C. [PDF]

Biomedicines, 2023
Encarnação M, David H, Coutinho MF, Moreira L, Alves S.   +4 more
europepmc   +1 more source

Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease. [PDF]

EBioMedicine, 2023
Chen J, Soni RK, Xu Y, Simoes S, Liang FX, DeFreitas L, Hwang R, Montesinos J, Lee JH, Area-Gomez E, Nandakumar R, Vardarajan B, Marquer C.   +12 more
europepmc   +1 more source

CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C. [PDF]

Mol Syndromol, 2023
Kasapkara ÇS, Ceylan AC, Yılmaz D, Kıreker Köylü O, Yürek B, Civelek Ürey B, Gündüz M.   +6 more
europepmc   +1 more source

Central sleep apnea and daytime sleepiness in Niemann-Pick type C disease: a report of 2 cases. [PDF]

J Clin Sleep Med, 2023
Zhang Y, Cheng Y, Li N, Hou Y, Jiao L, Yuan Y, Wang L, Huang Z, Han F, Li H, Zhan S.   +10 more
europepmc   +1 more source