Results 101 to 110 of about 42,400 (289)

Yunis Varon Syndrome [PDF]

, 2010
We have reported a case of Yunis-Varon syndrome which is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones, characteristic facial features, abnormalities of the fingers and/or toes ...
Dal, SI, Parmar, P
core   +1 more source

Dose‐Dependent Reprogramming of Chromatin Accessibility by SOX4 Drives the Transcriptional Response to Iron Overload

Advanced Science, EarlyView.
This study demonstrates that iron overload triggers widespread chromatin compaction and transcriptional repression in human granulosa cells, recapitulating features of endometriosis. The epigenetic reprogramming is orchestrated by a TFEB‐SOX4‐SWI/SNF axis, with SOX4 acting as a central, dosage‐sensitive regulator.
Feifei Li, Yaoqiu Wu, Guangyu Yang, Jingyi Lai, Xiaoyue Sun, Liyan Wang, Xiaoli Li, Jing Zhang, Qingxue Zhang, Hui Chen, Haiyan Lin, Bingxiang Xu, Junfeng Zhang, Hailong Wang, Anming Meng, Chunwei Cao   +15 more
wiley   +1 more source

ALKBH3 m1A Demethylase Deficiency Reduces Alzheimer's Amyloid‐β Pathology

Advanced Science, EarlyView.
This study identifies that ALKBH3‐driven m1A demethylation orchestrates Alzheimer's disease progression by disrupting mitochondrial and synaptic homeostasis. This epitranscriptomic mechanism suppresses PINK1‐mediated mitophagy via m1A erasure, leading to mitochondrial dysfunction, oxidative stress, elevated Aβ production, and impaired microglial ...
Yueyang Li, Sifei Yu, Kaidong Lu, Yujie Zhang, Mingjie Dong, Yan Peng, Liang Xue, Waleed Alam, Yuxuan Shui, Yi Zhou, Wuyunhan Ma, Meng Bao, Peiming Li, Peiyi Luo, Tiezhan Lu, Jiajia Li, Kang Zhang, Yuying Wang, Shuchen Yang, Nuoya Yin, Francesco Faiola, Zilong Gao, Jingfeng Zhou, Fei Zhao, Yali He, Magdalena J. Koziol   +25 more
wiley   +1 more source

Purifying and profiling lysosomes to expand understanding of lysosomal dysfunction–associated diseases

The Journal of Clinical Investigation
Lysosome storage dysfunction plays a central role in numerous human diseases, but a lack of appropriate tools has hindered lysosomal content profiling in clinical settings. In this issue of the JCI, Saarela et al. introduce a method called tagless LysoIP
Ali Shilatifard, Issam Ben-Sahra
doaj   +1 more source

Impact of ER stress and the unfolded protein response on Fabry disease

EBioMedicine
Summary: Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic missense and nonsense variants in the α-galactosidase A (GLA) gene, leading to absent or reduced enzyme activity.
Malte Lenders, Elisa Rudolph, Eva Brand
doaj   +1 more source

Central nervous system pathology in preclinical MPS IIIB dogs reveals progressive changes in clinically relevant brain regions

Scientific Reports, 2020
Mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo syndrome B) is an autosomal recessive lysosomal storage disorder caused by the deficiency of alpha-N-acetylglucosaminidase activity, leading to increased levels of nondegraded heparan sulfate (HS).
Martin T. Egeland, Marta M. Tarczyluk-Wells, Melissa M. Asmar, Evan G. Adintori, Roger Lawrence, Elizabeth M. Snella, Jackie K. Jens, Brett E. Crawford, Jill C. M. Wait, Emma McCullagh, Jason Pinkstaff, Jonathan D. Cooper, N. Matthew Ellinwood   +12 more
doaj   +1 more source

A Nanobody‐LNP Platform for Targeting and Relicensing Dendritic Cells for Potent Cancer Immunotherapy

Advanced Science, EarlyView.
Plastin‐2 (PLS2) is identified as a dual‐function receptor on DCs that mediates both nanoparticle uptake and immunomodulation. A nanobody‐LNP platform is engineered to integrate antigen delivery with relicensing DCs. The therapeutic strategy elicits potent anti‐tumor T cell responses and leads to significant inhibition of established tumors in vivo ...
Shugang Qin, Zhiying Huang, Hai Huang, Yupei Zhang, Yuting Chen, Xi He, Zhenyi Niu, Zhongzheng Xiang, Chaoyu Zou, Xiangrong Song   +9 more
wiley   +1 more source

Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene

Lipids in Health and Disease, 2006
Summary Background Arylsulfatase A (ASA)-deficient mice are a model for the lysosomal storage disorder metachromatic leukodystrophy. This lipidosis is characterised by the lysosomal accumulation of the sphingolipid sulfatide.
De Deyn PP, D'Hooge R, Mansson JE, Wittke D, Franken S, Lüllmann-Rauch R, Matzner U, Gieselmann V   +7 more
doaj   +1 more source

Tumor‐Induced Splenic Remodeling: Mechanisms of Systemic Immunosuppression and Emerging Therapeutic Opportunities

Advanced Science, EarlyView.
ABSTRACT Despite the transformative impact of cancer immunotherapies such as immune checkpoint blockade, durable clinical responses remain limited. Increasing evidence indicates that antitumor immunity is governed not only by the tumor microenvironment, but also by systemic immune regulation mediated by peripheral immune organs. Among these, the spleen
Yuehua Liu, Xiaoqian Nie, Xiaofei Gao
wiley   +1 more source

Nanoplastics and Neurodegeneration: A Roadmap From Mechanism to Causation

Advanced Science, EarlyView.
Nanoplastics are pervasive environmental contaminants with potentially profound implications for human health. Emerging evidence suggests a possible link between nanoplastic exposure and neurodegeneration, a key driver of ageing and dementia, yet causality remains unresolved.
Yuhuan Li, Yue Wang, Xiufang Liang, Mengze Xu, David T. Leong, Pu Chun Ke   +5 more
wiley   +1 more source