Presynaptic active zones in invertebrates and vertebrates

F Ackermann, CL Waites, CC Garner - EMBO reports, 2015 - embopress.org
The regulated release of neurotransmitter occurs via the fusion of synaptic vesicles (SV s) at
specialized regions of the presynaptic membrane called active zones (AZ s). These regions …

Rho GTPase regulatory proteins in podocytes

J Matsuda, K Asano-Matsuda, TM Kitzler, T Takano - Kidney International, 2021 - Elsevier
The Rho family of small GTPases (Rho GTPases) are the master regulators of the actin
cytoskeleton and consist of 22 members. Previous studies implicated dysregulation of Rho …

Self-organizing feature maps identify proteins critical to learning in a mouse model of down syndrome

C Higuera, KJ Gardiner, KJ Cios - PloS one, 2015 - journals.plos.org
Down syndrome (DS) is a chromosomal abnormality (trisomy of human chromosome 21)
associated with intellectual disability and affecting approximately one in 1000 live births …

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

S Ashraf, H Kudo, J Rao, A Kikuchi, E Widmeier… - Nature …, 2018 - nature.com
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney
disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20 …

Analysis of microisolated frontal cortex excitatory layer III and V pyramidal neurons reveals a neurodegenerative phenotype in individuals with Down syndrome

MJ Alldred, H Pidikiti, KW Ibrahim, SH Lee… - Acta …, 2024 - Springer
We elucidated the molecular fingerprint of vulnerable excitatory neurons within select
cortical lamina of individuals with Down syndrome (DS) for mechanistic understanding and …

A crosstalk between circular RNA, microRNA, and messenger RNA in the development of various brain cognitive disorders

L He, F Zhang, Y Zhu, M Lu - Frontiers in Molecular Neuroscience, 2022 - frontiersin.org
Patients with Alzheimer's disease (AD), Parkinson's disease (PD), traumatic brain injury
(TBI), stroke, and postoperative neurocognitive disorder (POND) are commonly faced with …

Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

JC Cossec, J Lavaur, DE Berman… - Human molecular …, 2012 - academic.oup.com
Enlarged early endosomes have been observed in neurons and fibroblasts in Down
syndrome (DS). These endosome abnormalities have been implicated in the early …

Hypoxia-induced alternative splicing in endothelial cells

JE Weigand, JN Boeckel, P Gellert, S Dimmeler - 2012 - journals.plos.org
Background Adaptation to low oxygen by changing gene expression is vitally important for
cell survival and tissue development. The sprouting of new blood vessels, initiated from …

Intersectin—many facets of a scaffold protein

M Mintoo, V Rajagopalan… - Biochemical Society …, 2024 - portlandpress.com
Intersectin (ITSN) is a multi-domain scaffold protein with a diverse array of functions
including regulation of endocytosis, vesicle transport, and activation of various signal …

Functional transcriptome analysis of the postnatal brain of the Ts1Cje mouse model for Down syndrome reveals global disruption of interferon-related molecular …

KH Ling, CA Hewitt, KL Tan, PS Cheah, S Vidyadaran… - BMC genomics, 2014 - Springer
Abstract Background The Ts1Cje mouse model of Down syndrome (DS) has partial
triplication of mouse chromosome 16 (MMU16), which is partially homologous to human …