Results 61 to 70 of about 15,838 (212)

HSP90 inhibitors reduce cholesterol storage in Niemann-Pick type C1 mutant fibroblasts

Journal of Lipid Research, 2021
Niemann-Pick type C1 (NPC1) disease is a lysosomal lipid storage disorder caused by mutations of the NPC1 gene. More than 300 disease-associated mutations are reported in patients, resulting in abnormal accumulation of unesterified cholesterol ...
Nina H. Pipalia, Syed Z. Saad, Kanagaraj Subramanian, Abigail Cross, Aisha al-Motawa, Kunal Garg, Brian S.J. Blagg, Len Neckers, Paul Helquist, Olaf Wiest, Daniel S. Ory, Frederick R. Maxfield   +11 more
doaj   +1 more source

Intestinal Acid Sphingomyelinase Protects From Severe Pathogen-Driven Colitis [PDF]

, 2019
Inflammatory diseases of the gastrointestinal tract are emerging as a global problem with increased evidence and prevalence in numerous countries. A dysregulated sphingolipid metabolism occurs in patients with ulcerative colitis and is discussed to ...
Becker, Katrin A., Ebel, Jana-Fabienne, Hose, Matthias [u.v.m.], Japtok, Lukasz, Klopfleisch, Robert, Meiners, Jana, Palmieri, Vittoria, Schumacher, Fabian, Yusuf, Ayan Mohamud, Zöller, Julia   +9 more
core   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Bibliometric Analysis of Cubebenes and Related Sesquiterpenes: Natural Occurrence, Biosynthesis, Pharmacological Activities, and In‐Silico‐Based Future Therapeutic Potential

eFood, Volume 7, Issue 3, June 2026.
Cubebene‐related sesquiterpenes, found across diverse biological sources, exhibit promising pharmacological activities, including anti‐inflammatory, neuroprotective, and anticancer effects. This review highlights their molecular diversity, ADME profiles, and predicted multitarget interactions, underscoring their therapeutic relevance and potential in ...
Khadija Boualam, Ahmet B. Ortaakarsu, Sohaib Khatib, Mohamed A. Farag, Mansour Sobeh   +4 more
wiley   +1 more source

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. [PDF]

, 2017
PURPOSE OF REVIEW: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay.
Anheim, M, Bauer, P, Bonnot, O, Clayton, P, Dardis, A, Dionisi-Vici, C, Gissen, P, Klünemann, H-H, Latour, P, Lourenço, CM, Marquardt, T, Ory, DS, Parker, A, Patterson, MC, Pocoví, M, Strupp, M, Vanier, MT, Walterfang, M   +17 more
core   +3 more sources

Altered transition metal homeostasis in Niemann–Pick disease, type C1 [PDF]

Metallomics, 2014
The Niemann–Pick type C1 disease protein, NPC1 may have a critical role in transition metal homeostasis.
Hung, YH, Faux, NG, Killilea, DW, Yanjanin, N, Firnkes, S, Volitakis, I, Ganio, G, Walterfang, M, Hastings, C, Porter, FD, Ory, DS, Bush, AI   +11 more
openaire   +3 more sources

Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Niemann‐Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder that affects approximately 1 in 100 000 live births. It is primarily caused by mutations in the NPC1 gene, which disrupts intracellular cholesterol transport and leads to lipid accumulation in late endosomes and lysosomes.
Sanaa Abdelmalek Mahmoud, AhmedElmontaser Mergani, Maren von Köckritz‐Blickwede, Hassan Y. Naim   +3 more
wiley   +1 more source

Niemann–Pick disease type C1 presenting with psychosis in an adolescent male [PDF]

, 2009
Niemann–Pick disease, a neurovisceral lysosomal lipid storage disorder, is a rare disorder that is unknown to many clinicians. The disease, that often has its onset during childhood or adolescence, shows a polymorphic clinical picture, including ...
Bachmann, Christian, Haberhausen, Michael, Jackowski-Dohrmann, Sabine, Ladner, Axel, Sandu, Sabine   +4 more
core   +3 more sources

Liver Fibrosis: Molecular Pathogenesis and Therapeutic Interventions

MedComm, Volume 7, Issue 5, May 2026.
We systematically summarized the etiologies, diagnostic approaches, and pathogenic mechanisms of liver fibrosis. Also, the therapeutic interventions for liver fibrosis were systematically classified into two main categories: etiological treatment and mechanism‐based antifibrotic therapies.
Jiaorong Qu, Wenqing Qin, Minghang Dong, Zhi Ma, Si Li, Runping Liu, Ranyun Chen, Changmeng Li, Xiaojiaoyang Li   +8 more
wiley   +1 more source

Modulation of glutamate metabolism in Niemann-pick disease type C1 mice

Molecular Genetics and Metabolism Reports
Niemann-Pick disease, type C1 (NPC1) is a lysosomal disease that results in progressive loss of Purkinje neurons. Previous work has implicated dysregulation of glutamate signaling as a potential pathogenic mechanism.
Antony Cougnoux, Carolina S. Alvarez, Andrea Gutierrez Maria, Emelin Hernandez, Niamh X. Cawley, Cristin D. Davidson, Forbes D. Porter   +6 more
doaj   +1 more source