GOSR2

Last update 08 May 2025

Basic Info

Synonyms

27 kDa Golgi SNARE protein, Bos1, golgi SNAP receptor complex member 2

+ [3]

Introduction

Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.

100 Clinical Results associated with GOSR2

100 Translational Medicine associated with GOSR2

0 Patents (Medical) associated with GOSR2

123

Literatures (Medical) associated with GOSR2

01 Sep 2024·Neurobiology of Disease

The natural history of progressive myoclonus ataxia

Article

Author: van der Veen, Sterre ; Tijssen, Marina A J ; de Koning, Tom J ; Eggink, Hendriekje ; Elting, Jan Willem J ; Verschuuren-Bemelmans, Corien C ; Sival, Deborah

Progressive myoclonus ataxia (PMA) is a rare clinical syndrome characterized by the presence of progressive myoclonus and ataxia, and can be accompanied by mild cognitive impairment and infrequent epileptic seizures. This is the first study to describe the natural history of PMA and identify clinical, electrophysiological, and genetic features explaining the variability in disease progression. A Dutch cohort of consecutive patients meeting the criteria of the refined definition of PMA was included. The current phenotype was assessed during in-person consultation by movement disorders experts, and retrospective data was collected to describe disease presentation and progression, including brain imaging and therapy efficacy. Extensive genetic and electrophysiological tests were performed. The presence of cortical hyperexcitability was determined, by either the identification of a cortical correlate of myoclonic jerks with simultaneous electromyography-electroencephalography or a giant somatosensory evoked potential. We included 34 patients with PMA with a median disease duration of 15 years and a clear progressive course in most patients (76%). A molecular etiology was identified in 82% patients: ATM, CAMTA1, DHDDS, EBF3, GOSR2, ITPR1, KCNC3, NUS1, POLR1A, PRKCG, SEMA6B, SPTBN2, TPP1, ZMYND11, and a 12p13.32 deletion. The natural history is a rather homogenous onset of ataxia in the first two years of life followed by myoclonus in the first 5 years of life. Main accompanying neurological dysfunctions included cognitive impairment (62%), epilepsy (38%), autism spectrum disorder (27%), and behavioral problems (18%). Disease progression showed large variability ranging from an epilepsy free PMA phenotype (62%) to evolution towards a progressive myoclonus epilepsy (PME) phenotype (18%): the existence of a PMA-PME spectrum. Cortical hyperexcitability could be tested in 17 patients, and was present in 11 patients and supported cortical myoclonus. Interestingly, post-hoc analysis showed that an absence of cortical hyperexcitability, suggesting non-cortical myoclonus, was associated with the PMA-end of the spectrum with no epilepsy and milder myoclonus, independent of disease duration. An association between the underlying genetic defects and progression on the PMA-PME spectrum was observed. By describing the natural history of the largest cohort of published patients with PMA so far, we see a homogeneous onset with variable disease progression, in which phenotypic evolution to PME occurs in the minority. Genetic and electrophysiological features may be of prognostic value, especially the determination of cortical hyperexcitability. Furthermore, the identification of cortical and non-cortical myoclonus in PMA helps us gain insight in the underlying pathophysiology of myoclonus.

01 Sep 2024·Transplantation Proceedings

The Impact of Prelung Transplant HLA Antibodies on Post-transplant Outcomes in Recipients With Autoimmune Lung Disease

Article

Author: Diamond, Joshua M ; Courtwright, Andrew M ; Goldberg, Hilary J ; Grobman, Benjamin

INTRODUCTIONPatients with advanced lung disease who have HLA antibodies against potential donors have reduced opportunities for transplant. Not all HLA antibodies, however, have the same impact on post-transplant outcomes. It is unknown whether HLA antibodies arising in the context of autoimmune lung disease are associated with increased antibody mediated rejection (AMR) or bronchiolitis obliterans stage 1 (BOS1)-free survival.METHODSThis study used retrospective data from SRTR to examine BOS1-free survival and AMR among sensitized recipients with autoimmune ILD compared to sensitization recipients with nonautoimmune ILD, accounting for other sources of sensitization such as pregnancy and blood transfusions. This study did not use organs from prisoners and participants were neither coerced nor paid.RESULTSSensitized recipients with autoimmune ILD did not have differences in BOS1-free survival when adjusting for sensitizing exposures (HR = 0.90, 95% CI: 0.70-1.16) or clinical covariates (HR = 0.96, 95% CI: 0.83-1.12). There was also no difference in AMR (OR = 1.92, 95% CI: 1.04-3.52).CONCLUSIONSHLA antibodies arising in the context of autoimmune ILD do not appear to have a differential impact on BOS1-free survival or AMR. This provides further evidence that patients sensitized via autoimmune lung diseases do not require separate decision-making regarding HLA antibody status compared to the overall sensitized population.

01 Aug 2024·Neurology Genetics

Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy

Article

Author: Arroyo, Monica S. ; Tian, Cuixia ; Schorry, Elizabeth K. ; Fuller, Christine ; Ulm, Elizabeth

ObjectivesThe GOSR2 gene is a Golgi vesicle transport gene that encodes for the Golgi SNAP receptor complex member 2 protein. This protein mediates transport between the medial and trans-Golgi compartments. The homozygous missense variant in the GOSR2 gene, c.430G>T, has been associated with progressive myoclonus epilepsy (PME). There have been reports suggesting that compound heterozygous GOSR2 variants are associated with the congenital muscular dystrophy (CMD) phenotype.MethodsIn this article, we report a pediatric case with congenital hypotonia, motor delay, elevated creatine kinase, and abnormal muscle biopsy consistent with CMD who subsequently developed PME. Whole-exome sequencing identified pathogenic compound heterozygous variants in the GOSR2 gene, one of which was the previously described PME-related c.430G>T(p.Gly144Trp), and a novel variant, c.22dup(p.Thr8fs).ResultTo our knowledge, this is a novel case of compound heterozygous variants in GOSR2 associated with both CMD and PME phenotypes.DiscussionThis case adds to the expanding clinical phenotype of GOSR2-related neurologic diseases.

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

GOSR2

Basic Info

Related

Analysis