Results 31 to 40 of about 12,273 (193)

Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. [PDF]

J Dev Behav Pediatr, 2020
ABSTRACT:Objective:Niemann-Pick disease type C1 (NPC1) is a lysosomal storage disease characterized by progressive neurodegeneration, with the age of diagnosis ranging from the prenatal period through adulthood. Although neurological symptoms usually precede genetic diagnosis, they do not necessarily prompt diagnosis in the early years. Few prospective
Thurm A, Chlebowski C, Joseph L, Farmer C, Adedipe D, Weiss M, Wiggs E, Farhat N, Bianconi S, Berry-Kravis E, Porter FD.   +10 more
europepmc   +4 more sources

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

Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1. [PDF]

J Child Neurol, 2018
This is the first study to objectively measure gait, balance, and upper limb coordination in a group of patients with NPC1 and compare the results to age and gender matched controls. This is also the first study to report effect sizes in these measures.
Sansare A, Zampieri C, Alter K, Stanley C, Farhat N, Keener LA, Porter F.   +6 more
europepmc   +4 more sources

Linear cyclodextrin polymer prodrugs as novel yherapeutics for Niemann-Pick type C1 disorder [PDF]

, 2018
Niemann-Pick Type C1 disorder (NPC) is a rare lysosomal storage disease characterized by the accumulation of cholesterol in lysosomes. NPC has no FDA approved treatments yet, however 2-hydroxypropyl-β-cyclodextrin (HPβCD) has shown efficacy for treating ...
Aditya Kulkarni, Alberto Macone, Atul Dolas, Jessica Dragotto, Maria Teresa Fiorenza, Paola Caporali, Ramesh Jayaraman, Sandeep Goyal, Soniya Johny   +8 more
core   +1 more source

Human and mouse neuroinflammation markers in Niemann‐Pick disease, type C1 [PDF]

Journal of Inherited Metabolic Disease, 2013
AbstractNiemann‐Pick disease, type C1 (NPC1) is an autosomal recessive lipid storage disorder in which a pathological cascade, including neuroinflammation occurs. While data demonstrating neuroinflammation is prevalent in mouse models, data from NPC1 patients is lacking. The current study focuses on identifying potential markers of neuroinflammation in
Cologna, Stephanie M., Cluzeau, Celine V. M., Yanjanin, Nicole M., Blank, Paul S., Dail, Michelle K., Siebel, Stephan, Toth, Cynthia L., Wassif, Christopher A., Lieberman, Andrew P., Porter, Forbes D.   +9 more
openaire   +3 more sources

Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1.

JAMA Neurol, 2020
Niemann-Pick disease, type C1 (NPC1) is a progressive neurovisceral disease with no US Food and Drug Administration-approved therapy. Miglustat, a drug used off-label in the United States for the treatment of NPC1, appears to stabilize neurologic disease progression.
Solomon BI, Smith AC, Sinaii N, Farhat N, King MC, Machielse L, Porter FD.   +6 more
europepmc   +4 more sources

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +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

Necroptosis in Niemann–Pick disease, type C1: a potential therapeutic target [PDF]

Cell Death & Disease, 2016
AbstractNiemann–Pick disease, type C1 (NPC1) is a neurodegenerative, lysosomal storage disorder due to mutation of theNPC1gene. The NPC1 phenotype is characterized by progressive neuronal dysfunction, including cerebellar ataxia and dementia. There is histological evidence of neuroinflammation and progressive neuronal loss, with cerebellar Purkinje ...
Cougnoux, A, Cluzeau, C, Mitra, S, Li, R, Williams, I, Burkert, K, Xu, X, Wassif, C A, Zheng, W, Porter, F D   +9 more
openaire   +2 more sources

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]

, 2017
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia, Dardis, Andrea, DE STEFANO, Maria Egle, Dragotto, Jessica, Erickson, Robert P., Fiorenza, Maria Teresa, Mangia, Franco, Zampieri, Stefania   +7 more
core   +1 more source