Results 111 to 120 of about 24,478,248 (209)

Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall. [PDF]

Ann Clin Transl Neurol
Makrygianni M, Pagan C, Citterio-Quentin A, Rouvet I, Dingeo G, Hanin C, Laurent-Levinson C, Pichard S, Héron B, Gourguechon C, Mandia D, Guitton J, Lacout C, Schleinitz N, Potier F, Flabeau O, Besse-Pinot E, Lamari F, Pettazzoni M, Nadjar Y.   +19 more
europepmc   +1 more source

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

Multi-omics reveal phosphatidic acid phosphatases modify Niemann-Pick type C disease severity. [PDF]

iScience
Munkacsi AB, Conway GE, Multerer K, Jackson MD, Csaki L, Rajakumar T, Sheridan JP, Niktab E, Hwu WL, Chien YH, Walterfang M, Del Rio Hernandez C, Chan RB, Zhou B, Nandakumar R, Zhang P, Di Paolo G, Maue RA, Reue K, Sturley SL.   +19 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

Niemann-Pick Disease, Type C [PDF]

, 2020
openaire   +3 more sources

Small Molecules to Elevate Rab7-GTPase Activity and Lower Cholesterol Accumulation in Niemann-Pick Type C Disease. [PDF]

Pharm Res
Nguyen MKL, Nikenich MR, Seifert K, Pinkenburg C, Lai F, Walther HL, Hartmann M, Szulc A, Sparkes E, Chen S, Wikramanayake R, Bernaus-Esqué M, Liu Y, Tebar F, Serwetnyk M, Wenninger A, Patzke C, Blagg BSJ, Ashfeld BL, Groundwater PW, Hibbs DE, Hoy AJ, Rentero C, Enrich C, Cho AN, Du JJ, Grewal T.   +26 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

Exploration of Bromodomain Proteins as Drug Targets for Niemann-Pick Type C Disease. [PDF]

Int J Mol Sci
Parente M, Barthelemy A, Tonini C, Caputo S, Sacchi A, Leone S, Segatto M, Pfrieger FW, Pallottini V.   +8 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

Discovery of Autophagy Modulators that Increase I1061T NPC1 Expression and Promote Cholesterol Efflux in Niemann-Pick Type C Patient-Derived Fibroblasts. [PDF]

ACS Chem Biol
Salkovski M, Arrieche Suarez A, Gao Q, Hippman RS, Petros ZA, Korkmaz-Vaisys MA, Gerlach EM, Alvarado-Cartagena YM, Nguyen TTA, Pavlinov I, Ilnytska O, Storch J, Cologna SM, Aldrich LN.   +13 more
europepmc   +1 more source