Results 91 to 100 of about 28,047,610 (162)

111. Miglustat in Niemann-Pick disease type C (NPC)

, 2008
111.
Ed Wraith (15917000), Darleen Vecchio (15917003), Helena Prady (15917006), Marc Patterson (5636096), Larry Abel (13056207)   +4 more
core  

'The role of ferroptosis in Niemann-Pick disease'

openLa malattia di Niemann-Pick di tipo C (NPCD) è una malattia genetica rara appartenente al gruppo di malattie da accumulo lisosomiale. Questa patologia è principalmente causata dalla mutazione del gene npc1 che codifica per una proteina della ...
MAIORINO, SOFIA
core  

Enhanced mGluR5 intracellular activity causes psychiatric alterations in Niemann Pick type C disease

Cell Death and Disease
Niemann-Pick disease Type C (NPC) is caused by mutations in the cholesterol transport protein NPC1 leading to the endolysosomal accumulation of the lipid and to psychiatric alterations.
Ana Toledano-Zaragoza, Violeta Enriquez-Zarralanga, Sara Naya-Forcano, Víctor Briz, Rocío Alfaro-Ruíz, Miguel Parra-Martínez, Daniel N. Mitroi, Rafael Luján, José A. Esteban, María Dolores Ledesma   +9 more
doaj   +1 more source

The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C. [PDF]

Biochem Soc Trans, 2023
Platt FM.
europepmc   +1 more source

Different solubilizing ability of cyclodextrin derivatives for cholesterol in Niemann-Pick disease type C treatment. [PDF]

Clin Transl Med, 2023
Yamada Y, Fukaura-Nishizawa M, Nishiyama A, Ishii A, Kawata T, Shirakawa A, Tanaka M, 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, Minami K, Yoshikawa N, Ikeda R, Matsuo M, Irie T, Ishitsuka Y.   +25 more
europepmc   +1 more source

An Australian standard of care for Niemann-Pick disease type C. [PDF]

Intern Med J
Tchan M, Smith N, Peters H, Van Velsen E, Marraffa C, Ellaway C, Cruz K, Mohammad SS, Kava M, Yaplito-Lee J, Balasubramaniam S, Rahman Y, Boot B, Bush A, Munro F, Hamoy L, Hung YH, Johnston P, Carpino D, Williams M, Kiss S, Quin R, Sutherland I, Walterfang M.   +23 more
europepmc   +1 more source

Global Proteomics for Identifying the Alteration Pathway of Niemann-Pick Disease Type C Using Hepatic Cell Models. [PDF]

Int J Mol Sci, 2023
Miyoshi K, Hishinuma E, Matsukawa N, Shirasago Y, Watanabe M, Sato T, Sato Y, Kumondai M, Kikuchi M, Koshiba S, Fukasawa M, Maekawa M, Mano N.   +12 more
europepmc   +1 more source

Long-term misdiagnosis of Niemann-Pick disease type C as Wilson disease: A case report. [PDF]

Medicine (Baltimore)
Xiang S, Hua D, Zhang L, Sun L, Yang W, Wang H.   +5 more
europepmc   +1 more source

Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and NPC2: Aberrant Lysosomal Cholesterol Trafficking and Oxidative Stress. [PDF]

Antioxidants (Basel), 2023
Lee D, Hong JH.
europepmc   +1 more source

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine. [PDF]

NPJ Genom Med, 2023
Las Heras M, Szenfeld B, Ballout RA, Buratti E, Zanlungo S, Dardis A, Klein AD.   +6 more
europepmc   +1 more source