Jaafar Tindi's research while affiliated with Albert Einstein College of Medicine and other places

Publications (6)

Article
Colony stimulating factor (CSF) receptor-1 (CSF-1R)-related leukoencephalopathy (CRL) is an adult-onset, demyelinating and neurodegenerative disease caused by autosomal dominant mutations in CSF1R, modeled by the Csf1r+/- mouse. The expression of Csf2, encoding granulocyte-macrophage CSF (GM-CSF) and of Csf3, encoding granulocyte CSF (G-CSF), are e...
Article
Full-text available
Stress is the most common trigger among episodic neurologic disorders. In episodic ataxia type 2 (EA2), physical or emotional stress causes episodes of severe motor dysfunction that manifest as ataxia and dystonia. We used the tottering (tg/tg) mouse, a faithful animal model of EA2, to dissect the mechanisms underlying stress-induced motor attacks....
Preprint
Full-text available
Our understanding of oligodendrocytes in brain function and disease is changing rapidly. We recently reported that heterozygous deletions in the ANKS1B gene lead to ANKS1B syndrome, a neurodevelopmental disorder presenting with autism spectrum disorder (ASD), attention deficit hyperactivity disorder, and speech and motor deficits. ANKS1B encodes fo...
Preprint
Full-text available
Colony stimulating factor (CSF) receptor-1 (CSF-1R)-related leukoencephalopathy (CRL) is an adult-onset, demyelinating neurodegenerative disease caused by autosomal dominant mutations in CSF1R, modeled by the Csf1r +/- mouse. The expression of Csf2, encoding granulocyte- macrophage CSF (GM-CSF) and of Csf3, encoding granulocyte CSF (G-CSF), are ele...
Article
Full-text available
Neurodevelopmental disorders, including autism spectrum disorder, have complex polygenic etiologies. Single-gene mutations in patients can help define genetic factors and molecular mechanisms underlying neurodevelopmental disorders. Here we describe individuals with monogenic heterozygous microdeletions in ANKS1B, a predicted risk gene for autism a...
Article
Full-text available
NMDA receptors (NMDARs) are key mediators of glutamatergic transmission and synaptic plasticity, and their dysregulation has been linked to diverse neuropsychiatric and neurodegenerative disorders. While normal NMDAR function requires regulated expression and trafficking of its different subunits, the molecular mechanisms underlying these processes...

Citations

... This gene encodes an activity dependent postsynaptic effector protein highly expressed in the brain, and it has been implicated in a wide array of neurodevelopmental phenotypes [89]. Importantly, haploinsufficiency of this gene in a mouse model resulted in impaired social interaction and sensorimotor dysfunction, which are core features of autism spectrum disorder [90]. Even more importantly, this gene exhibits allelic expression imbalance in the brain, which could be an outcome of genomic imprinting (which could result in a POE), although this is only one possible explanation [89]. ...
... Markov cluster (MCL) analysis of their overlapping interactome identified a large PPI community (32 of 92 proteins), including Syngap1 and Anks1b, that is significantly enriched for pathways of "autistic disorder" and "glutamate receptor signaling", indicating that this shared cluster may regulate excitatory synaptic transmission in ASD. Prior studies also indicated that Anks1b and Syngap1 both regulate synaptic activity and plasticity through NMDA-type glutamate receptors 43,44 , are dispersed from the PSD in response to synaptic activity in a CaMKII-dependent manner [45][46][47] , and are (which was not certified by peer review) is the author/funder. All rights reserved. ...