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4 results on '"Boxill, MF"'

1. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Author

Kojic, M, Gawda, T, Gaik, M, Begg, A, Salerno-Kochan, A, Kurniawan, ND, Jones, A, Drozdzyk, K, Koscielniak, A, Chramiec-Glabik, A, Hediyeh-Zadeh, S, Kasherman, M, Shim, WJ, Sinniah, E, Genovesi, LA, Abrahamsen, RK, Fenger, CD, Madsen, CG, Cohen, JS, Fatemi, A, Stark, Z, Lunke, S, Lee, J, Hansen, JK, Boxill, MF, Keren, B, Marey, I, Saenz, MS, Brown, K, Alexander, SA, Mureev, S, Batzilla, A, Davis, MJ, Piper, M, Boden, M, Burne, THJ, Palpant, NJ, Moller, RS, Glatt, S, Wainwright, BJ, Kojic, M, Gawda, T, Gaik, M, Begg, A, Salerno-Kochan, A, Kurniawan, ND, Jones, A, Drozdzyk, K, Koscielniak, A, Chramiec-Glabik, A, Hediyeh-Zadeh, S, Kasherman, M, Shim, WJ, Sinniah, E, Genovesi, LA, Abrahamsen, RK, Fenger, CD, Madsen, CG, Cohen, JS, Fatemi, A, Stark, Z, Lunke, S, Lee, J, Hansen, JK, Boxill, MF, Keren, B, Marey, I, Saenz, MS, Brown, K, Alexander, SA, Mureev, S, Batzilla, A, Davis, MJ, Piper, M, Boden, M, Burne, THJ, Palpant, NJ, Moller, RS, Glatt, S, and Wainwright, BJ

Abstract

Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common neurodevelopmental disorders and are characterized by substantial impairment in intellectual and adaptive functioning, with their genetic and molecular basis remaining largely unknown. Here, we identify biallelic variants in the gene encoding one of the Elongator complex subunits, ELP2, in patients with ID and ASD. Modelling the variants in mice recapitulates the patient features, with brain imaging and tractography analysis revealing microcephaly, loss of white matter tract integrity and an aberrant functional connectome. We show that the Elp2 mutations negatively impact the activity of the complex and its function in translation via tRNA modification. Further, we elucidate that the mutations perturb protein homeostasis leading to impaired neurogenesis, myelin loss and neurodegeneration. Collectively, our data demonstrate an unexpected role for tRNA modification in the pathogenesis of monogenic ID and ASD and define Elp2 as a key regulator of brain development.

Published
2021

2. [Treatment of status epilepticus in children and adults].

Author

Sidaros A, Boxill MF, Christensen J, Hoei-Hansen CE, and Beier CP

Subjects
Adult, Child, Humans, Seizures, Diet, Ketogenic, Drug Resistant Epilepsy therapy, Epilepsy, Status Epilepticus drug therapy
Abstract

This review finds that, in children and adults with epilepsy, there are several treatment options. Multiple antiseizure medications are available and in case of drug-resistant epilepsy, a non-pharmacological approach is recommended, including epilepsy surgery, vagus nerve stimulation, or ketogenic diet treatment. The aim of the treatment is to avoid further seizures, but also to avoid negative cognitive, psychological, and social consequences of epilepsy.

Published
2022

3. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.

Author

Kojic M, Gawda T, Gaik M, Begg A, Salerno-Kochan A, Kurniawan ND, Jones A, Drożdżyk K, Kościelniak A, Chramiec-Głąbik A, Hediyeh-Zadeh S, Kasherman M, Shim WJ, Sinniah E, Genovesi LA, Abrahamsen RK, Fenger CD, Madsen CG, Cohen JS, Fatemi A, Stark Z, Lunke S, Lee J, Hansen JK, Boxill MF, Keren B, Marey I, Saenz MS, Brown K, Alexander SA, Mureev S, Batzilla A, Davis MJ, Piper M, Bodén M, Burne THJ, Palpant NJ, Møller RS, Glatt S, and Wainwright BJ

Subjects
Animals, Autism Spectrum Disorder metabolism, Autism Spectrum Disorder physiopathology, Disease Models, Animal, Epigenesis, Genetic, Grooming physiology, Humans, Intellectual Disability metabolism, Intellectual Disability physiopathology, Intracellular Signaling Peptides and Proteins metabolism, Mice, Inbred C57BL, Mice, Inbred DBA, Mice, Knockout, Neurodevelopmental Disorders metabolism, Neurodevelopmental Disorders physiopathology, Phenotype, Sf9 Cells, Spodoptera, Mice, Autism Spectrum Disorder genetics, Intellectual Disability genetics, Intracellular Signaling Peptides and Proteins genetics, Mutation, Neurodevelopmental Disorders genetics, Transcriptome genetics
Abstract

Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common neurodevelopmental disorders and are characterized by substantial impairment in intellectual and adaptive functioning, with their genetic and molecular basis remaining largely unknown. Here, we identify biallelic variants in the gene encoding one of the Elongator complex subunits, ELP2, in patients with ID and ASD. Modelling the variants in mice recapitulates the patient features, with brain imaging and tractography analysis revealing microcephaly, loss of white matter tract integrity and an aberrant functional connectome. We show that the Elp2 mutations negatively impact the activity of the complex and its function in translation via tRNA modification. Further, we elucidate that the mutations perturb protein homeostasis leading to impaired neurogenesis, myelin loss and neurodegeneration. Collectively, our data demonstrate an unexpected role for tRNA modification in the pathogenesis of monogenic ID and ASD and define Elp2 as a key regulator of brain development.

Published
2021
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4. [Possible side effects from HPV vaccination in Denmark].

Author

Hammer A, Petersen LK, Rolving N, Boxill MF, Kallesøe KH, Becker S, Fredberg U, Sørensen VN, Rask CU, Fink PK, and Blaakær J

Subjects
Autoimmune Diseases etiology, Child, Complex Regional Pain Syndromes etiology, Denmark, Female, Humans, Immunization Programs, Nervous System Diseases etiology, Postural Orthostatic Tachycardia Syndrome etiology, Scandinavian and Nordic Countries, Thromboembolism etiology, Uterine Cervical Neoplasms prevention & control, Papillomavirus Vaccines adverse effects
Abstract

HPV vaccination offers protection against ~70% of cervical cancers, however, serious concerns have been raised about the possible side effects from HPV vaccination. Studies have found no increased risk of neurologic disease, autoimmune disorder, thromboembolic disease, postural orthostatic tachycardia syndrome, or complex regional pain syndrome in HPV-vaccinated persons compared to unvaccinated persons. Affected individuals should undergo a proper clinical examination to ensure a correct diagnosis and treatment, because symptoms might arise due to a somatic, psychiatric or functional disorder.

Published
2016

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