Results 191 to 200 of about 555,224 (393)

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

The endophilin curvature-sensitive motif requires electrostatic guidance to recycle synaptic vesicles in vivo [PDF]

, 2021
Lin Zhang, Yu Wang, Yongming Dong, Aaradhya Pant, Yan Liu, Laura Masserman, Richard N. McLaughlin, Jihong Bai   +7 more
openalex   +1 more source

Synaptic Vesicle-Recycling Machinery Components as Potential Therapeutic Targets

Pharmacological Reviews, 2017
Ying C. Li, E. Kavalali
semanticscholar   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Insights into organelle forming RNAs: Diversity, functions and future perspectives

Animal Models and Experimental Medicine, EarlyView.
RNA molecules play crucial roles in the formation and maintenance of cellular structures and organelles. These ‘organelle formation RNAs’ include ribosomal RNAs, paraspeckle‐forming RNAs, nuclear speckle‐forming RNAs, nucleolus‐forming RNAs, and cytoskeleton‐forming RNA.
Meng Gong, Xiangting Wang, Xiaolin Liang
wiley   +1 more source

A Novel Acetylcholine Nanosensor for Single Vesicle Storage and Sub‐Quantal Exocytosis in Living Neurons and Organoids

Angewandte Chemie, EarlyView.
Schematic representation of M@E@CF nanosensors for detecting vesicular storage and release in cholinergic neurons and brain organoids. (A) Nano‐tip microelectrodes modification via molds fabricated through 3D printing. (B) the reaction mechanism for acetylcholine detection at the electrode interface.
Wanying Zhu, Yufan Zhang, Hanwen Yu, Da Wang, Xinyue Zhang, Xiaowen Du, Shanshan Wu, Bingzhi Li, Yizhou Zhang, Hongliang Xin, Xing Guo, Yan Liu   +11 more
wiley   +2 more sources

Disease-associated mutations hyperactivate KIF1A motility and anterograde axonal transport of synaptic vesicle precursors [PDF]

, 2019
Kyoko Chiba, H. Takahashi, Min Chen, Hiroyuki Obinata, Shogo Arai, Koichi Hashimoto, Toshiyuki Oda, Richard J. McKenney, Shinsuke Niwa   +8 more
openalex   +1 more source

Hub genes and diagnostic model associated with mitochondrial function in Alzheimer's disease

Animal Models and Experimental Medicine, EarlyView.
Alzheimer's disease (AD) is the most common neurodegenerative disorder, and mitochondrial dysfunction has been confirmed in AD patients and mouse models. However, the pathogenic genes associated with AD and early diagnostic methods based on mitochondrial function remain to be explored.
Xuchao Zhu, Ling Zhang, Chuan Qin
wiley   +1 more source

Synaptic Vesicle-bound Pyruvate Kinase can Support Vesicular Glutamate Uptake

, 2008
Atsuhiko Ishida, Yasuko Noda, Tetsufumi Ueda   +2 more
openalex   +1 more source

Binding of the synaptic vesicle radiotracer [¹¹C]UCB-J is unchanged during functional brain activation using a visual stimulation task [PDF]

, 2020
Kelly Smart, Heather Liu, David Matuskey, Mingkai Chen, Kristen Torres, Nabeel Nabulsi, David Labaree, Jim Ropchan, Ansel T. Hillmer, Yiyun Huang, Richard E. Carson   +10 more
openalex   +1 more source