Results 81 to 90 of about 32,684 (231)

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui, Kotone Nakagawa, Takumi Tateno, Ayaka Dan, Dexin Meng, Yoshihiro Omori, Soma Tomihara, Suzuri Okamoto, Shigeru Sato, Motokazu Tsujikawa   +9 more
wiley   +1 more source

Mitochondrial mislocalization underlies Abeta42-induced neuronal dysfunction in a Drosophila model of Alzheimer's disease.

PLoS ONE, 2009
The amyloid-beta 42 (Abeta42) is thought to play a central role in the pathogenesis of Alzheimer's disease (AD). However, the molecular mechanisms by which Abeta42 induces neuronal dysfunction and degeneration remain elusive.
Kanae Iijima-Ando, Stephen A Hearn, Christopher Shenton, Anthony Gatt, Lijuan Zhao, Koichi Iijima   +5 more
doaj   +1 more source

Loss of VMP1 Impairs Tight Junction Recycling and Aggravates Intestinal Barrier Dysfunction in Inflammatory Bowel Disease

Advanced Science, EarlyView.
This study identifies vacuole membrane protein 1 (VMP1) as a critical regulator of intestinal epithelial barrier homeostasis. VMP1 facilitates the recruitment of CORO1C to late endosomes, supporting Retromer‐mediated recycling of the tight junction protein Occludin.
Jiawei Zhao, Jianjun Zou, Chen Zhou, Yingui Wang, Yiman Liu, Yanqing Zhou, Yuxiang Wang, Xinyu Zhang, Huishu Yang, Hongjie Yin, Dongsheng Bai, Yue Zhao, Na Lu   +12 more
wiley   +1 more source

Tulp1 deficiency causes early-onset retinal degeneration through affecting ciliogenesis and activating ferroptosis in zebrafish

Cell Death and Disease, 2022
Mutations in TUB-like protein 1 (TULP1) are associated with severe early-onset retinal degeneration in humans. However, the pathogenesis remains largely unknown. There are two homologous genes of TULP1 in zebrafish, namely tulp1a and tulp1b.
Danna Jia, Pan Gao, Yuexia Lv, Yuwen Huang, James Reilly, Kui Sun, Yunqiao Han, Hualei Hu, Xiang Chen, Zuxiao Zhang, Pei Li, Jiong Luo, Xinhua Shu, Zhaohui Tang, Fei Liu, Mugen Liu, Xiang Ren   +16 more
doaj   +1 more source

SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders.

Metabolism: Clinical and Experimental, 2019
BACKGROUND The molecular consequences of inborn errors of vitamin B12 or cobalamin metabolism are far from being understood. Moreover, innovative therapeutic strategies are needed for the treatment of neurological outcomes that are usually resistant to ...
Rose Ghemrawi, C. Arnold, S. Battaglia-Hsu, Grégory Pourié, I. Trinh, Christine Bassila, Rashka Charif, A. Wiedemann, J. Flayac, Aurélie Robert, Natacha Dreumont, F. Feillet, J. Guéant, David Coelho   +13 more
semanticscholar   +1 more source

Dynamic Shifts in ER–Plasma Membrane Junctions Signaling Define Pro‐Metastatic N‐Glycosylation and Predict Prostate Cancer Progression

Advanced Science, EarlyView.
Prostate cancer remains a leading cause of male cancer death, yet screening cannot reliably identify aggressive disease, underscoring the need for tissue biomarkers. It is shown that primary tumors increase ER–plasma membrane junction signaling via STIM1/ORP5, whereas metastasis features their loss, Golgi dispersal, and rapid conversion of high‐mannose
Amanda J. Macke, Tania Kamal, Taylor E. Divita, Artem N. Pachikov, Chad A. LaGrange, Rajesh Ravichandran, Martha Morton, Robert Powers, Haowen Qiu, Jean‐Jack M. Riethoven, Colm Morrissey, Melinda Wojtkiewicz, Rebekah L. Gundry, Carol A. Casey, Armen Petrosyan   +14 more
wiley   +1 more source

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

Nature Communications, 2021
Mutations in genes critical for proper intra-Golgi transport can cause human syndromes due to defects in glycosylation of proteins. Here, the authors identify a human variant of Syntaxin-5 that causes fatal multisystem disease and mislocalization of ...
Peter T. A. Linders, Eveline C. F. Gerretsen, Angel Ashikov, Mari-Anne Vals, Rinse de Boer, Natalia H. Revelo, Richard Arts, Melissa Baerenfaenger, Fokje Zijlstra, Karin Huijben, Kimiyo Raymond, Kai Muru, Olga Fjodorova, Sander Pajusalu, Katrin Õunap, Martin ter Beest, Dirk Lefeber, Geert van den Bogaart   +17 more
doaj   +1 more source

Brazilian Green Propolis Rescues Oxidative Stress-Induced Mislocalization of Claudin-1 in Human Keratinocyte-Derived HaCaT Cells

International Journal of Molecular Sciences, 2019
Claudin-1 (CLDN1) is expressed in the tight junction (TJ) of the skin granular layer and acts as a physiological barrier for the paracellular transport of ions and nonionic molecules.
Kana Marunaka, Mao Kobayashi, Shokoku Shu, T. Matsunaga, A. Ikari   +4 more
semanticscholar   +1 more source

Smart Nanotechnologies for Multimodal Neuromodulation and Brain Interfacing

Advanced Science, EarlyView.
Recent advances in smart nanotechnologies are expanding the toolbox for brain interfacing, from wireless neuromodulation and high‐resolution sensing to targeted delivery within the central nervous system. By combining responsive nanomaterials with bioinspired design, these platforms enable multimodal interactions with neurons and glia, while also ...
Tommaso Curiale, Marie Celine Lefevre, Alessio Carmignani, Maria Cristina Ceccarelli, Matteo Battaglini, Attilio Marino, Gianni Ciofani   +6 more
wiley   +1 more source

Interaction Between Actin and Microtubules During Plant Development

Cytoskeleton, EarlyView.
ABSTRACT The dynamic interaction between actin filaments (AFs) and microtubules (MTs) plays a crucial role in regulating key developmental and physiological processes in plant cells, particularly in the formation of specialized cell types with distinct shapes and functions, such as pollen tubes, trichomes, and leaf epidermal cells.
Zining Wu, Lidong Gao, M. Arif Ashraf, Qiong Nan   +3 more
wiley   +1 more source