Results 161 to 170 of about 21,986 (247)

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease

Brain Pathology, EarlyView.
SIDT2‐immunoreactive inclusions are observed in the striatum, cerebral cortex, and hypothalamus in HD cases with different Vonsattel grades, and the frequency of SIDT2‐immunoreactive inclusions is associated with longer CAG repeats in the huntingtin gene.
Sanaz Gabery, Sofia Bergh, Chrisovalantou Huridou, Rachel Y. Cheong, Barbara Baldo, Paul Günther Scheunemann, Marie‐Louisa Schoebel, Linda Holmquist Mengelbier, Elisabet Englund, Catriona McLean, Carsten Saft, Deniz Kirik, Maria Björkqvist, Glenda Halliday, Elisabeth Petrasch‐Parwez, Huu Phuc Nguyen, Jonasz Jeremiasz Weber, Åsa Petersén   +17 more
wiley   +1 more source

SCD2 Alleviates Diabetes‐Associated Cognitive Dysfunction by Improving Microglial Lipid Metabolism

Cell Proliferation, EarlyView.
This study reveals a novel mechanism of microglial metabolic dysfunction in diabetic cognitive impairment. Defective SCD2 disrupts monounsaturated fatty acid (MUFA) metabolism, triggering mitochondrial oxidative phosphorylation dysfunction and leading to abnormal lipid droplet accumulation (marked by PLIN2).
Yang Yang, Juan He, Jing Zheng, Bing Shao, Lixin Shi, Miao Zhang   +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

Periodontitis‐Associated Circulating EVs Promote Colorectal Cancer Progression via Carnosine‐Mediated Acidosis Adaptation

Cell Proliferation, EarlyView.
This study identifies a link between periodontitis and CRC progression mediated by carnosine‐enriched circulating EVs. These EVs target the intestine and elevate tumour cell intracellular pH (pHi), which rescues lysosomal function. This process drives a transition from dysfunctional lysosomes to functional ones, promoting a high malignancy phenotype in
Ruoyi Wu, Zihan Cai, Hualing Sun, Haikun Yu, Bicheng Zhang, Chi Zhang, Yi Fan, Xiaoxuan Zhu, Yueqi Ni, Yu Cui, Kaixin Wang, Zhe Li, Xinyi Zhou, Qing He, Yanru Wu, Yufeng Zhang   +15 more
wiley   +1 more source

Integrated Engineering of CAR‐T Cells for Solid Tumours

Cell Proliferation, EarlyView.
Solid tumours pose multifactorial barriers including antigen heterogeneity, immunosuppressive microenvironment, and poor T‐cell trafficking, limiting CAR‐T efficacy compared to hematologic malignancies. Integrated engineering strategies are essential, combining logic‐gated receptors for precision, metabolic‐epigenetic reprogramming for resilience, and ...
Chao Yang, Tan Li, Ping He, Zhijie Zhao, Shenglong Li, Liming Wang   +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

Consensus definition for developmental regression during childhood

Developmental Medicine &Child Neurology, EarlyView.
In this study, 41 expert interdisciplinary clinicians participated in two rounds of a Delphi survey to reach a consensus agreement on the developmental domains and duration of regression. Reaching an agreed working definition is a crucial first step towards the earlier and consistent identification of children experiencing developmental regression ...
Gauravi Gawade, Ellaina P Andersson, Ava Nielsen, Katrina Williams, Kirsten Furley   +4 more
wiley   +1 more source

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

Prog Neurobiol, 2013
Martyn C, Li J.
europepmc   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source