The Early Secretory Pathway Is Crucial for Multiple Aspects of the Hepatitis C Virus Life Cycle

Avula, Kiran; Singh, Balveer; Samantaray, Subhashish; Syed, Gulam Hussain

doi:10.1128/jvi.00180-23

Cited by 1 publication

(1 citation statement)

References 82 publications

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“…These viral hijacking routes may be of specific interest as they show a pathomechanism related to COPII vesicle trafficking. For instance, the hepatitis C virus is budded in the endoplasmic reticulum lumen and exits via COPII vesicles by modulating the protein milieu and reorganization at organellar sites such as ER-Golgi intermediate compartments [44]. Future studies may address how viral infection potentially adds on to disorders in COPII-related trafficking or autophagosome biogenesis on the background of biallelic GOSR2 deficiency.…”

Section: Studymentioning

confidence: 99%

Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy

Hentrich,

Parnes,

Lotze

et al. 2023

Genes

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Biallelic variants in the Golgi SNAP receptor complex member 2 gene (GOSR2) have been reported in progressive myoclonus epilepsy with neurodegeneration. Typical clinical features include ataxia and areflexia during early childhood, followed by seizures, scoliosis, dysarthria, and myoclonus. Here, we report two novel patients from unrelated families with a GOSR2-related disorder and novel genetic and clinical findings. The first patient, a male compound heterozygous for the GOSR2 splice site variant c.336+1G>A and the novel c.364G>A,p.Glu122Lys missense variant showed global developmental delay and seizures at the age of 2 years, followed by myoclonus at the age of 8 years with partial response to clonazepam. The second patient, a female homozygous for the GOSR2 founder variant p.Gly144Trp, showed only mild fine motor developmental delay and generalized tonic–clonic seizures triggered by infections during adolescence, with seizure remission on levetiracetam. The associated movement disorder progressed atypically slowly during adolescence compared to its usual speed, from initial intention tremor and myoclonus to ataxia, hyporeflexia, dysmetria, and dystonia. These findings expand the genotype–phenotype spectrum of GOSR2-related disorders and suggest that GOSR2 should be included in the consideration of monogenetic causes of dystonia, global developmental delay, and seizures.

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Section: Studymentioning

confidence: 99%