Results 11 to 20 of about 7,107 (122)

Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice. [PDF]

Life Sci Alliance, 2021
This work highlights the importance of CNS transduction for treatment of neurological diseases, a finding with significant clinical implications considering the long-lasting effects of gene therapy.
Davidson CD, Gibson AL, Gu T, Baxter LL, Deverman BE, Beadle K, Incao AA, Rodriguez-Gil JL, Fujiwara H, Jiang X, Chandler RJ, Ory DS, Gradinaru V, Venditti CP, Pavan WJ.   +14 more
europepmc   +2 more sources

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1. [PDF]

BMC Biol, 2021
Background Niemann-Pick disease, type C (NPC) is a childhood-onset, lethal, neurodegenerative disorder caused by autosomal recessive mutations in the genes NPC1 or NPC2 and characterized by impaired cholesterol homeostasis, a lipid essential for cellular
Prabhu AV, Kang I, De Pace R, Wassif CA, Fujiwara H, Kell P, Jiang X, Ory DS, Bonifacino JS, Ward ME, Porter FD.   +10 more
europepmc   +2 more sources

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1. [PDF]

Dis Model Mech, 2020
Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and glycosphingolipids.
Rodriguez-Gil JL, Watkins-Chow DE, Baxter LL, Elliot G, Harper UL, Wincovitch SM, Wedel JC, Incao AA, Huebecker M, Boehm FJ, Garver WS, Porter FD, Broman KW, Platt FM, Pavan WJ.   +14 more
europepmc   +2 more sources

Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study. [PDF]

Orphanet J Rare Dis
Background Niemann–Pick disease type C1 (NPC1) is a rare neurodegenerative disorder in which dysphagia is common and aspiration pneumonia is a leading cause of mortality.
Solomon BI, Munoz AM, Borruso A, Sinaii N, Farhat N, Alexander D, Labor DA, Do AD, Porter FD.   +8 more
europepmc   +2 more sources

Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C [version 1; peer review: 2 approved]

Wellcome Open Research, 2022
Background:  Blockade of tumour necrosis factor (anti-TNF) is effective in patients with Crohn’s Disease but has been associated with infection risk and neurological complications such as demyelination.
David Smith, Nada Al Eisa, Isabelle Williams, Wolfram Haller, Sumeet Pandey, Alicia Chan, Hien Quoc Huynh, Holm H. Uhlig, Ruth Bettels, Gesche Düeker, Chinenye R. Dike, Laurent Peyrin-Biroulet, Thorsten Marquardt, Catherine DeGeeter, Frances M. Platt, Nick Platt, Tobias Schwerd   +16 more
doaj   +1 more source

TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease

EMBO Molecular Medicine, 2022
Lysosomes are cell organelles that degrade macromolecules to recycle their components. If lysosomal degradative function is impaired, e.g., due to mutations in lysosomal enzymes or membrane proteins, lysosomal storage diseases (LSDs) can develop.
Anna Scotto Rosato, Einar K Krogsaeter, Dawid Jaślan, Carla Abrahamian, Sandro Montefusco, Chiara Soldati, Barbara Spix, Maria Teresa Pizzo, Giuseppina Grieco, Julia Böck, Amanda Wyatt, Daniela Wünkhaus, Marcel Passon, Marc Stieglitz, Marco Keller, Guido Hermey, Sandra Markmann, Doris Gruber‐Schoffnegger, Susan Cotman, Ludger Johannes, Dennis Crusius, Ulrich Boehm, Christian Wahl‐Schott, Martin Biel, Franz Bracher, Elvira De Leonibus, Elena Polishchuk, Diego L Medina, Dominik Paquet, Christian Grimm   +29 more
doaj   +1 more source

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

EBioMedicine, 2016
Niemann Pick type C (NP-C) is a rare neurodegenerative disorder caused by an impairment of intracellular lipid transport. Due to the heterogeneous clinical phenotype and the lack of a reliable blood test, diagnosis and therapy are often delayed for years.
Janine Reunert, Manfred Fobker, Frank Kannenberg, Ingrid Du Chesne, Maria Plate, Judith Wellhausen, Stephan Rust, Thorsten Marquardt   +7 more
doaj   +1 more source

NPC1-dependent alterations in KV2.1–CaV1.2 nanodomains drive neuronal death in models of Niemann-Pick Type C disease

Nature Communications, 2023
Lysosomes communicate through cholesterol transfer at endoplasmic reticulum (ER) contact sites. At these sites, the Niemann Pick C1 cholesterol transporter (NPC1) facilitates the removal of cholesterol from lysosomes, which is then transferred to the ER ...
Maria Casas, Karl D. Murray, Keiko Hino, Nicholas C. Vierra, Sergi Simó, James S. Trimmer, Rose E. Dixon, Eamonn J. Dickson   +7 more
doaj   +1 more source

First person – Jorge Rodriguez-Gil

Disease Models & Mechanisms, 2020
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms (DMM), helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

Olfactory deficits in Niemann-Pick type C1 (NPC1) disease.

PLoS ONE, 2013
BackgroundNiemann-Pick type C disease (NPC) is a rare autosomal recessive lipid storage disease characterized by progressive neurodegeneration. As only a few studies have been conducted on the impact of NPC on sensory systems, we used a mutant mouse ...
Marina Hovakimyan, Anja Meyer, Jan Lukas, Jiankai Luo, Volker Gudziol, Thomas Hummel, Arndt Rolfs, Andreas Wree, Martin Witt   +8 more
doaj   +1 more source