Browsing by Author "Hassan, Maryam"

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    Emerging evidence implicating a role for neurexins in neurodegenerative and neuropsychiatric disorders
    (The Royal Society, 2021) Cuttler, Katelyn; Hassan, Maryam; Carr, Jonathan
    Synaptopathies are brain disorders characterized by dysfunctional synapses, which are specialized junctions between neurons that are essential for the transmission of information. Synaptic dysfunction can occur due to mutations that alter the structure and function of synaptic components or abnormal expression levels of a synaptic protein. One class of synaptic proteins that are essential to their biology are cell adhesion proteins that connect the pre- and post-synaptic compartments. Neurexins are one type of synaptic cell adhesion molecule that have, recently, gained more pathological interest. Variants in both neurexins and their common binding partners, neuroligins, have been associated with several neuropsychiatric disorders. In this review, we summarize some of the key physiological functions of the neurexin protein family and the protein networks they are involved in. Furthermore, examination of published literature has implicated neurexins in both neuropsychiatric and neurodegenerative disorders.
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    Molecular modeling and simulation studies to prioritize sequence variants identified by whole-exome sequencing in a South African family with Parkinson's disease
    (University of Western Cape, 2021) Hassan, Maryam; Cloete, Ruben
    Parkinson’s disease (PD) is a neurodegenerative disorder that occurs due to a loss of dopaminergic neurons in the substantia nigra. It is one of the most common neurodegenerative disorders, ranking second only to Alzheimer’s disease. Research on the genetic causes of PD over the past two decades has led to the discovery of several PD-associated genes. Currently, researchers have identified 23 genes that are linked to rare monogenic forms of PD with Mendelian inheritance. In sub-Saharan Africa (SSA), PD has received little attention due to factors such as underfunded healthcare infrastructure, the absence of epidemiological data, and a scarcity of neurologists. In the relatively few published studies, it has been shown that the known PD mutations play a minor role in disease etiology in SSA populations. In the current study, we follow up on previous work done in an MMed study investigating a South African family with several family members (mother and three sons) suffering from PD.