Results 121 to 130 of about 120,291 (395)

High-throughput screening reveals novel mutations in spinal muscular atrophy patients [PDF]

, 2020
Ruiping Zhang, Chunyu Gu, Linjie Pu, Yingtao Meng, Jianbo Shu, Chunquan Cai   +5 more
openalex   +1 more source

The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy

Neuroscience Insights, 2020
Spinal muscular atrophy (SMA) is 1 of the leading causes of infant mortality. SMA is mostly caused by low levels of Survival Motor Neuron (SMN) protein due to deletion of or mutation in the SMN1 gene.
R. Singh, E. Ottesen, N. Singh
semanticscholar   +1 more source

Piezoelectric Stimulation of Neural Cells: Exploring the Synergistic Potential of Hybrid Scaffolds for Enhanced Regeneration

Advanced Materials Interfaces, EarlyView.
Hybrid piezoelectric scaffolds offer a promising route for Central Nervous System regeneration by combining structural and electrical cues to support neural stem cell growth. This review highlights their potential to overcome current challenges in neural tissue engineering by exploring porous hybrid materials, their biological interactions, and ...
Heather F. Titterton, Chris R. Bowen, Hamideh Khanbareh   +2 more
wiley   +1 more source

Spinal Muscular Atrophy and Arthrogryposis

Pediatric Neurology Briefs, 1997
Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children’s Hospital of Philadelphia, PA, and the Children’s Hospital at ...
J Gordon Millichap
doaj   +1 more source

Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]

, 2013
Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge ...
Boardman, Felicity K.
core   +1 more source

Metformin Restores Mitochondrial Function and Neurogenesis in POLG Patient‐Derived Brain Organoids

Advanced Science, EarlyView.
Patient‐derived POLG‐mutant cortical organoids reveal neuronal subtype‐specific mitochondrial and synaptic defects, with dopaminergic neurons most affected. Metformin treatment restores neuronal identity, mitochondrial function, and excitability, increased mtDNA maintenance, and reprogrammed metabolism via TCA and redox pathways.
Zhuoyuan Zhang, Tsering Yangzom, Ning Lu, Shenglong Deng, Xianglu Xiao, Guang Yang, Kristina Xiao Liang   +6 more
wiley   +1 more source

From the cell membrane to the nucleus: unearthing transport mechanisms for Dynein [PDF]

, 2012
Mutations in the motor protein cytoplasmic dynein have been found to cause Charcot-Marie-Tooth disease, spinal muscular atrophy, and severe intellectual disabilities in humans. In mouse models, neurodegeneration is observed.
A. Friedman, A. G. Hendricks, A. G. Hendricks, A. J. Roberts, A. Kunwar, A. P. Carter, A. V. Kuznetsov, A. V. Kuznetsov, Anotida Madzvamuse, C. Korn, C. L. Brown, Caroline A. Garrett, D. A. Smith, D. Tsygankov, E. Bananis, J. L. Ross, J. Munárriz, J. W. Driver, J. W. Murray, J. W. Wojcieszyn, K. Imamula, K. M. Ori-McKenney, K. S. Zadeh, L. W. Duchen, Laurie Crossley, M. A. Gee, M. B. Harms, M. Bier, M. H. Willemsen, M. Hafezparast, M. N. Weedon, M. Schliwa, M. Schuster, M. Schuster, Majid Hafezparast, O. J. Driskell, P. Ashwin, R. D. Vale, S. A. Burgess, S. Ally, S. C. Schaffner, S. Hoepfner, S. Lubery, S. Mitragotri, S. Mukherji, T. D. Pollard, T. Kon, V. Soppina, W. Deng, X. J. Chen, Y. Gao, Y. Imafuku, Y. Zhang, Y. Zhang   +53 more
core   +1 more source

Midkine‐Mediated Microglia Activation after Renal Injury Promotes Cognitive Impairment Following Ischemic Renal Injury

Advanced Science, EarlyView.
The mechanism of secondary cognitive impairment following AKI. When renal ischemic injury progresses to fibrosis, renal fibroblasts and damaged tubular cells secrete MDK, which circulates through the bloodstream, crosses the damaged BBB, and accumulates in the hippocampus tissue (an area crucial for learning and memory).
Li Lu, Bixiao Liu, Yu Yang, Tao Meng, Yuanyuan Chang, Yao Peng, Jia Guo, Zhuqing Wang, Hongqian Guo, Liuhua Zhou, Xiaozhi Zhao   +10 more
wiley   +1 more source

Multiscale Construction, Evaluation, and Application of Organoids

Advanced Science, EarlyView.
Organoids are pivotal models with transformative biomedical potential. A comprehensive multi‐scale perspective is presented, encompassing dual‐scale construction, four‐dimensional evaluation, triple‐point application, and an analysis of the current challenges faced by organoid technology, aiming to advance organoid research and its biomedical ...
Wanting Ma, Zhenglin Dong, Zhu'anzhen Zheng, Long Bai, Xingcai Zhang, Jiacan Su   +5 more
wiley   +1 more source

Experiential knowledge of disability, impairment and illness : the reproductive decisions of families genetically at risk [PDF]

, 2014
As the capacities of Reproductive Genetic Technologies expand, would-be parents face an increasing number of reproductive decisions regarding testing and screening for different conditions.
Boardman, Felicity K.
core   +1 more source