Results 61 to 70 of about 14,662 (177)

Cholesterol‐Lowering Treatment Blocks Epithelial‐Mesenchymal Transition (EMT) Associated Invasiveness and Drug Resistance in Breast and Colorectal Adenocarcinoma Models

Cancer Medicine, Volume 15, Issue 7, July 2026.
ABSTRACT Background Epithelial‐mesenchymal transition (EMT) is a cellular process involved in the invasion and metastasis of cancer cells. Deregulated cellular cholesterol is associated with treatment resistance and metastatic potential in cancer cells; however, the link between EMT and cholesterol is unclear.
Shanen Perumal, Naaziyah Abdulla, Ruth Aronson, Mandeep Kaur   +3 more
wiley   +1 more source

Niemann- Pick disease type B. Study of theree cases and literature revision

Acta Pediátrica de México, 2014
Objective: To describe the course of type B Niemann- Pick disease (ENP-B) by following the evolution of three pediatric patients. Methods: Three patients, two of them male, age be- tween two and eleven years, with type B Niemann-Pick disease were ...
Zarco Román Jorge, García Pérez Alva Nydia, Andrade Aldama Paulina   +2 more
doaj   +1 more source

Miglustat in Niemann-Pick disease type C patients: a review

Orphanet Journal of Rare Diseases, 2018
Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations.
Mercè Pineda, Mark Walterfang, Marc C. Patterson   +2 more
doaj   +1 more source

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

Вопросы современной педиатрии
Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova   +7 more
doaj   +1 more source

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

Orphanet Journal of Rare Diseases, 2019
Background Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Niemann-Pick ...
Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska, Anna Tylki-Szymańska   +5 more
doaj   +1 more source

Hepatic and Pulmonary Involvement in an Adult Female Affected by Type B Niemann-Pick Disease

Eurasian Journal of Medicine, 2019
We report a case of type B Niemann-Pick disease in a 39-year-old female patient. She presented with hepatomegaly, splenomegaly and moderate mental retardation without other signs or symptoms.
Fatih Albayrak, Rahsan Yıldırım, Hakan Dursun, Fuat Erdem, Sare Altaş, Abdullah Uyanık, Mustafa Keleş   +6 more
doaj  

Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish[S]

Journal of Lipid Research, 2011
Niemann-Pick disease, type C (NP-C), often associated with Niemann-Pick disease, type C1 (NPC1) mu­tations, is a cholesterol-storage disorder characterized by cellular lipid accumulation, neurodegeneration, and reduced steroid production.
Tyler Schwend, Evyn J. Loucks, Diana Snyder, Sara C. Ahlgren   +3 more
doaj   +1 more source

Niemann–Pick Disease Type C Associated with Fuchs Heterochromic Iridocyclitis

Advanced Biomedical Research, 2017
In this study, we report a 26-year-old female case of Niemann–Pick disease type C in association with Fuchs heterochromic iridocyclitis who was admitted with the complaint of ocular pain and redness following trauma.
Farzan Kianersi, Seyed Ali Sonbolestan
doaj   +1 more source

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed Allele

Journal of Inborn Errors of Metabolism and Screening, 2015
Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive neurovisceral lysosomal storage disease. We report on a juvenile onset, now 25-year-old female patient with typical neurologic symptoms, including vertical gaze palsy, of NP-C.
Julia Jecel MD, Klaus Harzer MD, Eduard Paschke MD, Stefanie Beck-Wödl PhD, Peter Bauer MD, Milos Hejtman MD, Regina Katzenschlager MD   +6 more
doaj   +1 more source

Niemann-Pick Disease Type C

Pediatric Neurology Briefs, 1989
The neurologic symptomatology in 22 patients with Niemann-Pick disease type C have been analyzed and reported from the Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
openaire   +4 more sources