Results 141 to 150 of about 22,029 (242)

Delayed diagnosis of hereditary fructose intolerance presenting as chronic lean steatosis in an adolescent

JPGN Reports, EarlyView.
Abstract Hereditary fructose intolerance (HFI) typically presents in infancy with acute metabolic crisis upon the introduction of fructose. We report a case of a 13‐year‐old female with chronic abdominal pain, short stature, and persistent mild transaminitis.
Alexandra Hurlock, Melissa Lah, Hannah Sue Hyaduck, Jean P. Molleston, Chaowapong Jarasvaraparn   +4 more
wiley   +1 more source

miR‐9 Restricts Insulin Secretion by Targeting Rab34, Which Mediates Lysosomal Degradation of Proinsulin

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Insulin secretion is a complex, vesicular transport process. Rab34 is a key regulator of intracellular vesicle transport; however, its role in insulin secretion has not yet been reported. miRNA‐9 is vital for the development and progression of the diagnosis and treatment of type 2 diabetes. This study aimed to investigate whether miR‐9 targets
Zhen‐Zhen Guo, Ao‐Ying Li, Ting‐Ting Xiang, Zu‐Hao Zhang, Ao Deng, Yang Han   +5 more
wiley   +1 more source

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. [PDF]

J Clin Invest, 2014
te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM.   +35 more
europepmc   +1 more source

Ginsenoside Rg1 Ameliorates LPS‐Induced Sepsis‐Associated Lung Injury in Mice via VEGFC/D‐VEGFR3 Signaling‐Mediated Lymphangiogenesis and Lymphatic Remodeling

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Sepsis‐induced acute lung injury (ALI) remains challenging to treat, with conventional anti‐inflammatory therapies offering limited efficacy. The lymphatic system is crucial for removing edema and inflammatory mediators, and its impairment can exacerbate lung injury.
He Wang, Lan Hu, Chun‐Pan Zhang, Wen‐Jie Qi, Yu‐Guo Song   +4 more
wiley   +1 more source

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

Fig4 deficiency: a newly emerged lysosomal storage disorder? [PDF]

Prog Neurobiol, 2013
Martyn C, Li J.
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

Intracellular Delivery of β-Galactosidase Enzyme Using Arginase-Responsive Dextran Sulfate/Poly-l-arginine Capsule for Lysosomal Storage Disorder. [PDF]

ACS Omega, 2017
Gupta M, Pandey H, Sivakumar S.
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

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