Results 111 to 120 of about 12,631 (179)

From lipoprotein metabolism to blood clotting: Highlights of the 2025 Fredrickson lipid research conference. [PDF]

J Lipid Res
Smith AN, Beg MA, Hur WS, Ginsburg D, Kullo IJ, Davies SS, Tabas I, Williams JW, Mineo C, Cai B, Gupta RK, Amengual J, Schwendeman A, Graf GA, Sorci Thomas M, Zheng Z.   +15 more
europepmc   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions. [PDF]

Traffic
Jiang S, Fu J, Li S, Li Z, Zhao Q, Yin Y, Yang M, Wang Y.   +7 more
europepmc   +1 more source

Pathophysiological significance of cholesterol in ciliopathies. [PDF]

Fujita Med J
Itabashi T, Morita T, Hirosawa M, Kobayashi D, Hasan A, Kimura S, Itoh H, Miyamoto T.   +7 more
europepmc   +1 more source

Discovery of Autophagy Modulators that Increase I1061T NPC1 Expression and Promote Cholesterol Efflux in Niemann-Pick Type C Patient-Derived Fibroblasts. [PDF]

ACS Chem Biol
Salkovski M, Arrieche Suarez A, Gao Q, Hippman RS, Petros ZA, Korkmaz-Vaisys MA, Gerlach EM, Alvarado-Cartagena YM, Nguyen TTA, Pavlinov I, Ilnytska O, Storch J, Cologna SM, Aldrich LN.   +13 more
europepmc   +1 more source

Editorial: Advancements in prenatal diagnosis: from noninvasive prenatal tests to novel fetal imaging. [PDF]

Front Med (Lausanne)
Cohen SM, Chen M, Sun L.
europepmc   +1 more source

Unfolding the genetic map of monogenic liver diseases in Egypt. [PDF]

Hum Genet
El-Karaksy H, Mogahed EA, Baroudy S, Ghita H, Enayet A, El-Sharkawy M, Radwan NA, Hosny H, Elmonem MA.   +8 more
europepmc   +1 more source

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 mice. [PDF]

Life Sci Alliance
Mylvara AV, Gibson AL, Gu T, Davidson CD, Incao AA, Melnyk K, Gembic SR, Pierre-Jacques D, Cologna SM, Venditti CP, Porter FD, Pavan WJ.   +11 more
europepmc   +1 more source

Clinical characteristics and treatment outcomes in patients with Niemann-Pick disease type C (NP-C): a cross-sectional study. [PDF]

Orphanet J Rare Dis
Karimzadeh P, Ahmadabadi F, Zeinali V, Kamfar S, Ashrafi MR, Tavasoli AR, Tonekaboni SH, Ghanaati F.   +7 more
europepmc   +1 more source

Niemann--Pick's disease.

Indian pediatrics, 1970
C M, Mahajan, H J, Singh
openaire   +1 more source

Dysregulation of Extracellular Vesicle Concentration, MicroRNAs, and Surface Proteins in Patients With Niemann-Pick Disease Type C. [PDF]

J Extracell Biol
Hawthorne SCB, Sandau US, McFarland TJ, Berry-Kravis E, Saugstad JA.   +4 more
europepmc   +1 more source