Results 121 to 130 of about 28,047,610 (162)

Gene Expression Profile of the Cerebral Cortex of Niemann-Pick Disease Type C Mutant Mice. [PDF]

Genes (Basel)
Servín-Muñoz IV, Ortuño-Sahagún D, Reyes-Mata MP, Griñán-Ferré C, Pallàs M, González-Castillo C.   +5 more
europepmc   +1 more source

Clinical Evaluation of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C: A Critical Perspective. [PDF]

Mov Disord Clin Pract
Lopez G, Holgado C.
europepmc   +1 more source

Role of mTORC1 signaling in postnatal microglia activation preceding neurodegeneration in a mouse model for Niemann-Pick disease Type C. [PDF]

PLoS One
Murray CE, Betancourt-Trompa DS, Martinez MS, Carson JM, Walsh LJ, Remillard WC, Fordyce KB, Reddy R, Soto I.   +8 more
europepmc   +1 more source

Inability of α-cyclodextrins to accommodate cholesterol potentially underlies their lack of efficacy and ototoxicity in Niemann-Pick disease type C treatment. [PDF]

Sci Rep
Yamada Y, Tanaka M, Ikeda Y, Kondo Y, Takeo T, Nakagata N, Miwa T, Takeda H, Orita Y, Motoyama K, Higashi T, Arima H, Seki T, Kurauchi Y, Katsuki H, Higaki K, Matsusaka K, Minami K, Yoshikawa N, Ikeda R, Matsuo M, Irie T, Ishitsuka Y.   +22 more
europepmc   +1 more source

Lysosomal and mitochondrial liaisons in Niemann Pick type C disease

Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct ...
Enrich Bastús, Carles, García-Ruiz, Carmen, Zanlungo, Silvana, Fernández-Checa Torres, José Carlos, Torres, Sandra, Balboa, Elisa   +5 more
core  

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C. [PDF]

Neurology
Patterson MC, Ramaswami U, Donald A, Foltan T, Gautschi M, Gissen P, Hahn A, Jones SA, Kay R, Kolniková M, Park J, Reichmannová S, Walterfang M, Wibawa P, Rohrbach M, Martakis K, Bremova-Ertl T.   +16 more
europepmc   +1 more source

Small-molecule activation of TFEB alleviates Niemann-Pick disease type C via promoting lysosomal exocytosis and biogenesis. [PDF]

Elife
Du K, Chen H, Pan Z, Zhao M, Cheng S, Luo Y, Zhang W, Li D.   +7 more
europepmc   +1 more source

Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC). [PDF]

Orphanet J Rare Dis
Stern S, Crisamore K, Schuck R, Pacanowski M.   +3 more
europepmc   +1 more source

Characterization of central manifestations in patients with Niemann-Pick disease type C. [PDF]

Genet Med
van Gool R, Golden E, Goodlett B, Zhang F, Vogel AP, Tourville JA, Yao K, Cay M, Tiwari S, Yang E, Zekelman LR, Todd N, O'Donnell LJ, Ren B, Bodamer OA, Al-Hertani W, Upadhyay J.   +16 more
europepmc   +1 more source