Results 161 to 170 of about 22,029 (242)

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

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Neurodegenerative Diseases in Children: A Comprehensive Review. [PDF]

Int J Mol Sci
Ailioaie C, Ailioaie LM, Stan CI, Sava A, Chiran DA.   +4 more
europepmc   +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

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

Lysosomal storage disorders [PDF]

The Indian Journal of Pediatrics, 1999
openaire   +1 more source

Cholesteryl ester storage disease-a rare case of elevated liver enzymes and cholesterol levels with similarities to familial hypercholesterolaemia: a case report. [PDF]

Eur Heart J Case Rep
Martinsen MH, Højland A, Kvistgaard H, Bork C.   +3 more
europepmc   +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

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease. [PDF]

PLoS One, 2015
Clark LN, Chan R, Cheng R, Liu X, Park N, Parmalee N, Kisselev S, Cortes E, Torres PA, Pastores GM, Vonsattel JP, Alcalay R, Marder K, Honig LL, Fahn S, Mayeux R, Shelanski M, Di Paolo G, Lee JH.   +18 more
europepmc   +1 more source

Macrophage Lipid Homeostasis Drives IVDD via a Senescence‐Dependent Impairment of Efferocytosis

Cell Proliferation, EarlyView.
Intervertebral disc degeneration (IVDD) has been a leading cause of low back pain and lacks disease‐modifying therapies. Although dysregulated disc lipid metabolism is implicated, its impact on the immune microenvironment, particularly macrophages, remains unknown.
Jinyu Wang, Shiyong Ling, Qi Wang, Xuege Qiao, Jianpeng Xing, Siyang Ji, Linhui Han, Chen Yan, Zhishen Niu, Lei Yuan, Baolian Zhao, Kaiqiang Sun, Jiangang Shi   +12 more
wiley   +1 more source