Cargando…

L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease

Lysosomal storage disorders are characterized by progressive accumulation of undigested macromolecules within the cell due to lysosomal dysfunction. 573C10 is a Schwann cell line derived from a mouse model of Niemann-Pick type C disease-1, NPC (−/−). Under serum-starved conditions, NPC (−/−) cells m...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yanagisawa, Hiroko, Ishii, Tomohiro, Endo, Kentaro, Kawakami, Emiko, Nagao, Kazuaki, Miyashita, Toshiyuki, Akiyama, Keiko, Watabe, Kazuhiko, Komatsu, Masaaki, Yamamoto, Daisuke, Eto, Yoshikatsu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698481/ https://www.ncbi.nlm.nih.gov/pubmed/29162837 http://dx.doi.org/10.1038/s41598-017-15305-9

Ejemplares similares

A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS
por: Wu, Chen, et al.
Publicado: (2020)

Efficacy and safety of N-acetyl-l-leucine in Niemann–Pick disease type C
por: Bremova-Ertl, Tatiana, et al.
Publicado: (2021)

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report
por: Kawazoe, Tomoya, et al.
Publicado: (2018)

Niemann-Pick disease type C
por: Vanier, Marie T
Publicado: (2010)

Stem Cells and Niemann Pick Disease
por: Andolina, Marino
Publicado: (2014)

Stem Cells in Niemann-Pick Disease
por: Kim, Sun-Jung, et al.
Publicado: (2008)

Niemann-Pick disease and platelet dysfunction
Publicado: (2012)

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene
por: Hossain, Mohammad Arif, et al.
Publicado: (2019)

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease
por: Torres, Sandra, et al.
Publicado: (2017)

Niemann-Pick Disease: An Approach for Diagnosis in Adulthood
por: Patiño-Escobar, Bonell, et al.
Publicado: (2019)

The prognostic value of Niemann-Pick C1-like protein 1 and Niemann-Pick disease type C2 in hepatocellular carcinoma
por: Chen, Ke-Ji, et al.
Publicado: (2018)

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
por: Bolton, Shaun C., et al.
Publicado: (2022)

N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study
por: Fields, T, et al.
Publicado: (2023)

Clear Cell Chondrosarcoma in Association With Niemann-Pick Disease
por: Srikanth, K. N., et al.
Publicado: (2005)

Immune dysfunction in Niemann‐Pick disease type C
por: Platt, Nick, et al.
Publicado: (2015)

Anesthetic Management in a Child With Niemann-Pick Disease
por: Espahbodi, Ebrahim, et al.
Publicado: (2016)

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder
por: Panigrahi, Inusha, et al.
Publicado: (2019)

A calcium message for Niemann-Pick type C
por: Cologna, Stephanie M.
Publicado: (2019)

Treatment trials in Niemann-Pick type C disease
por: Sitarska, Dominika, et al.
Publicado: (2021)

Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease
por: Okada, Jun, et al.
Publicado: (2017)

Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann–Pick Disease Type C
por: Maekawa, Masamitsu, et al.
Publicado: (2019)

Niemann Pick C disease: lessons from zebrafish development
Publicado: (2011)

Intestinal and Hepatic Niemann-Pick C1-Like 1
por: Park, Sung-Woo
Publicado: (2013)

Complement is dispensable for neurodegeneration in Niemann-Pick disease type C
por: Lopez, Manuel E, et al.
Publicado: (2012)

Efficacy and ototoxicity of different cyclodextrins in Niemann–Pick C disease
por: Davidson, Cristin D., et al.
Publicado: (2016)

Genome sequencing in a case of Niemann–Pick type C
por: Dougherty, Max, et al.
Publicado: (2016)

Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis
por: Hashemian, Somayyeh, et al.
Publicado: (2019)

Retinal axonal degeneration in Niemann–Pick type C disease
por: Havla, Joachim, et al.
Publicado: (2020)

Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease
por: Colaco, Alexandria, et al.
Publicado: (2019)

Estimated prevalence of Niemann–Pick type C disease in Quebec
por: Labrecque, Marjorie, et al.
Publicado: (2021)

Spectrum of Movement Disorders in Niemann-Pick Disease Type C
por: Devaraj, Rashmi, et al.
Publicado: (2022)

Niemann-Pick Disease: A Case Report and Literature Review
por: Vélez Pinos, Paola Jacqueline, et al.
Publicado: (2023)

Immortalized Adult Rodent Schwann Cells as In Vitro Models to Study Diabetic Neuropathy
por: Sango, Kazunori, et al.
Publicado: (2011)

The role of Purkinje cell-derived VEGF in cerebellar astrogliosis in Niemann-Pick type C mice
por: Park, Min Hee, et al.
Publicado: (2018)

Effects of intracerebroventricular administration of 2-hydroxypropyl-β-cyclodextrin in a patient with Niemann–Pick Type C disease
por: Matsuo, Muneaki, et al.
Publicado: (2014)

Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat
por: Imanishi, A., et al.
Publicado: (2020)

Coincidence of Niemann-Pick Disease and beta-Thalassemia; a Case Report
por: Farahmand, Fatemeh, et al.
Publicado: (2010)

Photomyogenic response in Niemann–Pick type C: a case report
por: Bour, A., et al.
Publicado: (2010)

Niemann–Pick disease type C: introduction and main clinical features
por: Burlina, A.
Publicado: (2014)

Genetic and laboratory diagnostic approach in Niemann Pick disease type C
por: McKay Bounford, K., et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_ebic22qppkhd6b43j434ov7k4c