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SNARE mimicry by the CD225 domain of IFITM3 enables regulation of homotypic late endosome fusion.
EMBO J
January 2025
HIV Dynamics and Replication Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, USA.
Article Synopsis
- * Research reveals that the CD225 domain harbors a SNARE-like motif, enabling interactions with SNARE proteins, which are essential for membrane fusion; this is particularly important in diseases linked to mutations in these regions, such as neurological disorders.
- * One member, IFITM3, is shown to interact with SNARE proteins to protect against influenza A virus by disrupting SNARE complex assembly and enhancing endosomal cargo movement to lysosomes, suggesting a key role for SNARE modulation in the diverse functions of CD225
Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series.
Headache
September 2024
Neurology Section, Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.
Background: Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Variants in calcium voltage-gated channel subunit alpha1 A (CACNA1A), ATPase Na+/K+ transporting subunit alpha 2 (ATP1A2), and sodium voltage-gated channel alpha subunit 1 (SCN1A) genes have a well-established association with the development of FHM. Recent studies suggest that other genes may also have a significant role in the pathogenesis of FHM, including proline-rich transmembrane protein 2 (PRRT2).
View Article and Find Full Text PDFValidation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants.
Front Neurol
January 2024
Chair and Department of Developmental Neurology, Poznan University of Medical Sciences, Poznań, Poland.
Introduction: Targeted Next-Generation Sequencing Panels (TNGSP) have become a standard in global clinical practice. Instead of questioning the necessity of next-generation sequencing in epilepsy patients, contemporary large-scale research focuses on factors such as the size of TNGSP, the comparative advantages of exome or genome-wide sequencing over TNGSP, and the impact of clinical, electrophysiological, and demographic variables on genetic test performance. This study aims to elucidate the demographic and clinical factors influencing the performance of TNGSP in 138 Polish patients with epilepsy, recognizing the pivotal role of genetic testing in guiding patient management and therapy.
View Article and Find Full Text PDFObjective: Copy number variants (CNVs) contribute to genetic risk and genetic etiology of both rare and common epilepsies. Whereas many studies have explored the role of CNVs in sporadic or severe cases, fewer have been done in familial generalized and focal epilepsies.
Methods: We analyzed exome sequence data from 267 multiplex families and 859 first-degree relative pairs with a diagnosis of genetic generalized epilepsies or nonacquired focal epilepsies to predict CNVs.
Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.
Neurosci Bull
July 2024
Department of Medical Genetics and Center for Rare Diseases, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310009, China.
Article Synopsis
- * It is primarily caused by mutations in the PRRT2 or TMEM151A genes, but the exact processes behind the disorder are still not fully understood.
- * The cerebellum is thought to play a critical role in PKD, with potential links to issues in ion channels and synaptic transmission, while the cerebrum's involvement needs further study.
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