Cargando…

A novel remitting leukodystrophy associated with a variant in FBP2

Leukodystrophies are genetic disorders of cerebral white matter that almost exclusively have a progressive disease course. We became aware of three members of a family with a disorder characterized by a sudden loss of all previously acquired abilities around 1 year of age followed by almost complete...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gizak, Agnieszka, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wiśniewski, Janusz, Duda, Przemysław, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Höhne, Wolfgang, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Rakus, Dariusz, Gärtner, Jutta, Huppke, Peter
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8097510/ https://www.ncbi.nlm.nih.gov/pubmed/33977262 http://dx.doi.org/10.1093/braincomms/fcab036

Ejemplares similares

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review
por: Kettwig, Matthias, et al.
Publicado: (2016)

Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy
por: Meier, Kolja, et al.
Publicado: (2020)

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
por: Huppke, Peter, et al.
Publicado: (2017)

Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome
por: Wong, Keit Men, et al.
Publicado: (2023)

Breathing drives CSF: Impact on spaceflight disease and hydrocephalus
por: Ludwig, Hans-Christoph, et al.
Publicado: (2019)

FBP2—A New Player in Regulation of Motility of Mitochondria and Stability of Microtubules in Cardiomyocytes
por: Pietras, Łukasz, et al.
Publicado: (2022)

The Reverse Warburg Effect Is Associated with Fbp2-Dependent Hif1α Regulation in Cancer Cells Stimulated by Fibroblasts
por: Duda, Przemysław, et al.
Publicado: (2020)

Expression of Fbp2, a Newly Discovered Constituent of Memory Formation Mechanisms, Is Regulated by Astrocyte–Neuron Crosstalk
por: Hajka, Daria, et al.
Publicado: (2020)

Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo’s concentric sclerosis
por: Dreha-Kulaczewski, Steffi F., et al.
Publicado: (2008)

Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels
por: Brendel, Cornelia, et al.
Publicado: (2013)

Characterization of the MeCP2(R168X) Knockin Mouse Model for Rett Syndrome
por: Wegener, Eike, et al.
Publicado: (2014)

Delayed-Release Dimethyl Fumarate Safety and Efficacy in Pediatric Patients With Relapsing-Remitting Multiple Sclerosis
por: Alroughani, Raed, et al.
Publicado: (2021)

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism are both ATP1A3-related disorders
por: Rosewich, Hendrik, et al.
Publicado: (2014)

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
por: Brendel, Cornelia, et al.
Publicado: (2010)

Erratum to: Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
por: Brendel, Cornelia, et al.
Publicado: (2013)

Respiration and the watershed of spinal CSF flow in humans
por: Dreha-Kulaczewski, Steffi, et al.
Publicado: (2018)

Spinal CSF flow in response to forced thoracic and abdominal respiration
por: Aktas, Gökmen, et al.
Publicado: (2019)

Paediatric pineal region cysts: enigma or impaired neurofluid system?
por: Ludwig, Hans C., et al.
Publicado: (2023)

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum
por: Schmidt, Julia, et al.
Publicado: (2022)

Deep breathing couples CSF and venous flow dynamics
por: Kollmeier, Jost M., et al.
Publicado: (2022)

Consistent control of disease activity with fingolimod versus IFN β-1a in paediatric-onset multiple sclerosis: further insights from PARADIGMS
por: Deiva, Kumaran, et al.
Publicado: (2020)

Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo’s concentric sclerosis
por: Dreha-Kulaczewski, S. F., et al.
Publicado: (2009)

MRI-based diagnostic biomarkers for early onset pediatric multiple sclerosis
por: Weygandt, Martin, et al.
Publicado: (2014)

GSK3β: A Master Player in Depressive Disorder Pathogenesis and Treatment Responsiveness
por: Duda, Przemysław, et al.
Publicado: (2020)

Aging‐associated changes in hippocampal glycogen metabolism in mice. Evidence for and against astrocyte‐to‐neuron lactate shuttle
por: Drulis‐Fajdasz, Dominika, et al.
Publicado: (2018)

Targeting a moonlighting function of aldolase induces apoptosis in cancer cells
por: Gizak, Agnieszka, et al.
Publicado: (2019)

Will Quantitative Proteomics Redefine Some of the Key Concepts in Skeletal Muscle Physiology?
por: Gizak, Agnieszka, et al.
Publicado: (2016)

Absolute Proteome Analysis of Hippocampus, Cortex and Cerebellum in Aged and Young Mice Reveals Changes in Energy Metabolism
por: Gostomska-Pampuch, Kinga, et al.
Publicado: (2021)

Serum neurofilament light chain is a useful biomarker in pediatric multiple sclerosis
por: Reinert, Marie-Christine, et al.
Publicado: (2020)

Borrelia miyamotoi FbpA and FbpB Are Immunomodulatory Outer Surface Lipoproteins With Distinct Structures and Functions
por: Booth, Charles E., et al.
Publicado: (2022)

Dimeric and tetrameric forms of muscle fructose-1,6-bisphosphatase play different roles in the cell
por: Wiśniewski, Janusz, et al.
Publicado: (2017)

Fructose 1,6-Bisphosphatase 2 Plays a Crucial Role in the Induction and Maintenance of Long-Term Potentiation
por: Duda, Przemysław, et al.
Publicado: (2020)

Pregnancy outcomes in interferon-beta-exposed patients with multiple sclerosis: results from the European Interferon-beta Pregnancy Registry
por: Hellwig, Kerstin, et al.
Publicado: (2020)

Effect of fingolimod on health-related quality of life in paediatric patients with multiple sclerosis: results from the phase 3 PARADIGMS Study
por: Krupp, Lauren, et al.
Publicado: (2022)

Parallel Implementation of Katsevich's FBP Algorithm
por: Yang, Jiansheng, et al.
Publicado: (2006)

FBP1 Is an Interacting Partner of Menin
por: Zaman, Shadia, et al.
Publicado: (2014)

Insulin/IGF1-PI3K-dependent nucleolar localization of a glycolytic enzyme – phosphoglycerate mutase 2, is necessary for proper structure of nucleolus and RNA synthesis
por: Gizak, Agnieszka, et al.
Publicado: (2015)

Cell-to-cell lactate shuttle operates in heart and is important in age-related heart failure
por: Gizak, Agnieszka, et al.
Publicado: (2020)

Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients
por: Thoms, Sven, et al.
Publicado: (2011)

The FUSE binding proteins FBP1 and FBP3 are potential c-myc regulators in renal, but not in prostate and bladder cancer
por: Weber, Achim, et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_2ke26ea9ve4qdmh0s67jis6mks