Cargando…

Defects in the retina of Niemann-pick type C 1 mutant mice

BACKGROUND: Niemann-Pick type C1 (NPC1) disease is an inherited lysosomal storage disease caused by mutation of the Npc1 gene, resulting in a progressive accumulation of unesterified cholesterol and glycolipids in lysosomes of multiple tissues and leading to neurodegeneration and other disease. In N...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yan, Xin, Ma, Lucy, Hovakimyan, Marina, Lukas, Jan, Wree, Andreas, Frank, Marcus, Guthoff, Rudolf, Rolfs, Arndt, Witt, Martin, Luo, Jiankai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267119/ https://www.ncbi.nlm.nih.gov/pubmed/25472750 http://dx.doi.org/10.1186/s12868-014-0126-2

Ejemplares similares

Olfactory Deficits in Niemann-Pick Type C1 (NPC1) Disease
por: Hovakimyan, Marina, et al.
Publicado: (2013)

Increased Regenerative Capacity of the Olfactory Epithelium in Niemann–Pick Disease Type C1
por: Meyer, Anja, et al.
Publicado: (2017)

Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1
por: Holzmann, Carsten, et al.
Publicado: (2021)

Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann–Pick-Disease Type C1
por: Ebner, Lynn, et al.
Publicado: (2018)

Pharmacologic Treatment Assigned for Niemann Pick Type C1 Disease Partly Changes Behavioral Traits in Wild-Type Mice
por: Schlegel, Victoria, et al.
Publicado: (2016)

Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice
por: Yang, Fan, et al.
Publicado: (2019)

A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1
por: Neßlauer, Anna-Maria, et al.
Publicado: (2019)

Corneal Alterations during Combined Therapy with Cyclodextrin/Allopregnanolone and Miglustat in a Knock-Out Mouse Model of NPC1 Disease
por: Hovakimyan, Marine, et al.
Publicado: (2011)

Main Olfactory and Vomeronasal Epithelium Are Differently Affected in Niemann-Pick Disease Type C1
por: Witt, Martin, et al.
Publicado: (2018)

Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann–Pick Disease Type C1
por: Bräuer, Anja U., et al.
Publicado: (2019)

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
por: Giese, Anne-Katrin, et al.
Publicado: (2015)

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks
por: Trilck, Michaela, et al.
Publicado: (2013)

Defective platelet function in Niemann‐Pick disease type C1
por: Chen, Oscar C. W., et al.
Publicado: (2020)

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)

Defective Autophagy, Mitochondrial Clearance and Lipophagy in Niemann-Pick Type B Lymphocytes
por: Canonico, Barbara, et al.
Publicado: (2016)

Organ Weights in NPC1 Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches
por: Antipova, Veronica, et al.
Publicado: (2022)

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)

Myelin Defects in Niemann–Pick Type C Disease: Mechanisms and Possible Therapeutic Perspectives
por: Bernardo, Antonietta, et al.
Publicado: (2021)

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1
por: Chen, Oscar C W, et al.
Publicado: (2023)

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)

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease
por: Nicoli, Elena-Raluca, et al.
Publicado: (2016)

Understanding and Treating Niemann–Pick Type C Disease: Models Matter
por: Pallottini, Valentina, et al.
Publicado: (2020)

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)

HSP90 inhibitors reduce cholesterol storage in Niemann-Pick type C1 mutant fibroblasts
por: Pipalia, Nina H., et al.
Publicado: (2021)

ADAM23 promotes neuronal differentiation of human neural progenitor cells
por: Markus-Koch, Annett, et al.
Publicado: (2017)

Erythropoietin and the effect of oxygen during proliferation and differentiation of human neural progenitor cells
por: Giese, Anne-Katrin, et al.
Publicado: (2010)

ADAM10 Negatively Regulates Neuronal Differentiation during Spinal Cord Development
por: Yan, Xin, et al.
Publicado: (2014)

Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale
por: Patterson, Marc C., et al.
Publicado: (2021)

The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts
Publicado: (1989)

Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
por: Mengel, Eugen, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_9jf142fdoncb28enfp6ribevmb