A review on the role of genetic mutations in the autism spectrum disorder
S Ghafouri-Fard, A Pourtavakoli, BM Hussen… - Molecular …, 2023 - Springer
Autism spectrum disorder (ASD) is among the most widespread neurodevelopmental
diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this …
diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this …
Roles for ELMOD2 and Rootletin in ciliogenesis
RE Turn, J Linnert, ED Gigante, U Wolfrum… - Molecular Biology of …, 2021 - Am Soc Cell Biol
ELMOD2 is a GTPase-activating protein with uniquely broad specificity for ARF family
GTPases. We previously showed that it acts with ARL2 in mitochondrial fusion and …
GTPases. We previously showed that it acts with ARL2 in mitochondrial fusion and …
The ARF GAPs ELMOD1 and ELMOD3 act at the Golgi and cilia to regulate ciliogenesis and ciliary protein traffic
RE Turn, Y Hu, SI Dewees, N Devi… - Molecular biology of …, 2022 - Am Soc Cell Biol
ELMODs are a family of three mammalian paralogues that display GTPase-activating protein
(GAP) activity toward a uniquely broad array of ADP-ribosylation factor (ARF) family …
(GAP) activity toward a uniquely broad array of ADP-ribosylation factor (ARF) family …
The ARF GAP ELMOD2 acts with different GTPases to regulate centrosomal microtubule nucleation and cytokinesis
RE Turn, MP East, R Prekeris… - Molecular Biology of the …, 2020 - Am Soc Cell Biol
ELMOD2 is a∼ 32 kDa protein first purified by its GTPase-activating protein (GAP) activity
toward ARL2 and later shown to have uniquely broad specificity toward ARF family GTPases …
toward ARL2 and later shown to have uniquely broad specificity toward ARF family GTPases …
Comprehensive circRNA expression profile and construction of circRNAs-related ceRNA network in a mouse model of autism
J Wang, Z Yang, C Chen, Y Xu, H Wang, B Liu… - Frontiers in …, 2021 - frontiersin.org
Autism is a common disease that seriously affects the quality of life. The role of circular
RNAs (circRNAs) in autism remains largely unexplored. We aimed to detect the circRNA …
RNAs (circRNAs) in autism remains largely unexplored. We aimed to detect the circRNA …
WDR31 displays functional redundancy with GTPase-activating proteins (GAPs) ELMOD and RP2 in regulating IFT complex and recruiting the BBSome to cilium
The correct intraflagellar transport (IFT) assembly at the ciliary base and the IFT turnaround
at the ciliary tip are key for the IFT to perform its function, but we still have poor …
at the ciliary tip are key for the IFT to perform its function, but we still have poor …
Identification of de novo JAK2 and MAPK7 mutations related to autism spectrum disorder using whole-exome sequencing in a Chinese child and adolescent trio …
J Jiao, M Zhang, P Yang, Y Huang, X Hu, J Cai… - Journal of Molecular …, 2020 - Springer
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with high phenotypic and
genetic heterogeneity. Whole-exome sequencing studies have shown that de novo single …
genetic heterogeneity. Whole-exome sequencing studies have shown that de novo single …
Dendritic arbor dynamics and stability in health and disease
M Mlostek, J Zeng, M Urbanska, J Jaworski - Acta Neurobiologiae …, 2023 - ane.pl
Dendritogenesis, a process of dendritic arbor development, is essential for the formation of
functional neuronal networks, and in mammals, it begins in early life and continues into …
functional neuronal networks, and in mammals, it begins in early life and continues into …
WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium
The term “ciliopathy” refers to a group of over 35 rare disorders characterized by defective
cilia and many overlapping clinical features, such as hydrocephalus, cerebellar vermis …
cilia and many overlapping clinical features, such as hydrocephalus, cerebellar vermis …
The glycoprotein GP130 governs the surface presentation of the G protein–coupled receptor APLNR
K Trillet, KA Jacobs, G André-Grégoire, A Thys… - Journal of Cell …, 2021 - rupress.org
Glioblastoma is one of the most lethal forms of adult cancer, with a median survival of∼ 15
mo. Targeting glioblastoma stem-like cells (GSCs) at the origin of tumor formation and …
mo. Targeting glioblastoma stem-like cells (GSCs) at the origin of tumor formation and …