Results 141 to 150 of about 22,003 (247)

WDR72 Drives Esophageal Squamous Cell Carcinoma Progression by Inhibiting Autophagy via the PI3K/Akt/mTOR Pathway

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Esophageal squamous cell carcinoma (ESCC) is an aggressive malignancy with a high rate of recurrence and metastasis, necessitating the identification of novel therapeutic targets. WD repeat‐containing protein 72 (WDR72) has been linked to various cancers, but its specific biological function and underlying mechanism in ESCC remain largely ...
Hao Wu, Zhong‐Xiang Jiang, Zheng Jiang
wiley   +1 more source

Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic. [PDF]

Cell
Logan T, Simon MJ, Rana A, Cherf GM, Srivastava A, Davis SS, Yoon Low RL, Chiu CL, Fang M, Huang F, Bhalla A, Llapashtica C, Prorok R, Pizzo ME, Calvert MEK, Sun EW, Hsiao-Nakamoto J, Rajendra Y, Lexa KW, Srivastava DB, van Lengerich B, Wang J, Robles-Colmenares Y, Kim DJ, Duque J, Lenser M, Earr TK, Nguyen H, Chau R, Tsogtbaatar B, Ravi R, Skuja LL, Solanoy H, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Dennis MS, Kariolis MS, Monroe KM, Przybyla L, Sanchez PE, Meisner R, Diaz D, Henne KR, Watts RJ, Henry AG, Gunasekaran K, Astarita G, Suh JH, Lewcock JW, DeVos SL, Di Paolo G.   +52 more
europepmc   +1 more source

Lysosomal storage disorder gene variants in multiple system atrophy. [PDF]

Brain, 2018
Pihlstrøm L, Schottlaender L, Chelban V, MSA Exome Consortium, Meissner WG, Federoff M, Singleton A, Houlden H.   +7 more
europepmc   +1 more source

Elevation of Stearoyl‐Coenzyme A Desaturase and Monounsaturated Fatty Acids in Parkinson's Disease Serum

Movement Disorders, EarlyView.
Abstract Background Emerging evidence indicates that dysregulation of monounsaturated fatty acids (MUFAs), synthesized by the enzyme stearoyl‐coenzyme A desaturase (SCD), impacts on α‐synuclein pathology in the Parkinson's disease (PD) brain. Objective The objective of this study was to analyze SCD and MUFA‐enriched lipids in the periphery of patients ...
Finula I. Isik, Russell Pickford, Michelle Chua, Simon J.G. Lewis, Nicolas Dzamko, Woojin Scott Kim   +5 more
wiley   +1 more source

Exogenous estrogen partially rescues progesterone deficiency and autophagosome enlargement in <i>Mcoln1</i> ^-/- mouse model with lysosomal storage disorder. [PDF]

Reprod Dev Med
Wang Z, Li Y, Andersen CL, El Zowalaty AE, Hancock JM, Martin TE, Howerth EW, Viswanathan S, Byun H, Ye X.   +9 more
europepmc   +1 more source

Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria. [PDF]

FEBS Lett, 2018
Pande S, Bizilj W, Guo HC.
europepmc   +1 more source

Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Sofie Slingerland, Sygrid van der Zee, Sven C.D. van Ijzendoorn, Anne C. Slomp, Jeffrey M. Boertien, Sanne K. Meles, Arjan Kol, Marie Geerlings, Teus van Laar   +8 more
wiley   +1 more source

Development and Evaluation of Different Electrospun Cysteamine-Loaded Nanofibrous Webs: A Promising Option for Treating a Rare Lysosomal Storage Disorder. [PDF]

Pharmaceutics
Omer S, Nagy N, Pinke B, Mészáros L, Kazsoki A, Zelkó R.   +5 more
europepmc   +1 more source

Association of luteal cell degeneration and progesterone deficiency with lysosomal storage disorder mucolipidosis type IV in Mcoln1-/- mouse model†. [PDF]

Biol Reprod, 2019
Wang Z, El Zowalaty AE, Li Y, Andersen CL, Ye X.   +4 more
europepmc   +1 more source

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source