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Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H.
Mol Brain
November 2022
Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, Québec, Canada.
The mechanism of assembly of RNA polymerase III (Pol III), the 17-subunit enzyme that synthesizes tRNAs, 5 S rRNA, and other small-nuclear (sn) RNAs in eukaryotes, is not clearly understood. The recent discovery of the HSP90 co-chaperone PAQosome (Particle for Arrangement of Quaternary structure) revealed a function for this machinery in the biogenesis of nuclear RNA polymerases. However, the connection between Pol III subunits and the PAQosome during the assembly process remains unexplored.
View Article and Find Full Text PDFUnrelated umbilical cord blood transplantation for children with hereditary leukodystrophy: A retrospective study.
Front Neurol
September 2022
Department of Hematology and Oncology, Children's Hospital of Fudan University, Shanghai, China.
Objective: To analyze the efficiency of unrelated umbilical cord blood transplantation (UCBT) in the treatment of hereditary leukodystrophy following busulfan- and cyclophosphamide-based myeloablative chemotherapy.
Methods: A retrospective study was performed in patients with hereditary leukodystrophy who underwent UCBT after myeloablative chemotherapy between April 2015 and March 2020.
Results: The study cohort included 12 pediatric patients (ten males), nine with cerebral adrenoleukodystrophy (ALD) and three with juvenile globoid cell leukodystrophy (GLD).
Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia.
Cells
June 2022
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Mutations in the peroxisomal half-transporter ABCD1 cause X-linked adrenoleukodystrophy, resulting in elevated very long-chain fatty acids (VLCFA), progressive neurodegeneration and an associated pain syndrome that is poorly understood. In the nervous system of mice, we found ABCD1 expression to be highest in dorsal root ganglia (DRG), with satellite glial cells (SGCs) displaying higher expression than neurons. We subsequently examined sensory behavior and DRG pathophysiology in mice deficient in ABCD1 compared to wild-type mice.
View Article and Find Full Text PDFClinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy.
Brain Commun
January 2020
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.
Accumulated experience supports the efficacy of allogenic haematopoietic stem cell transplantation in arresting the progression of childhood-onset cerebral form of adrenoleukodystrophy in early stages. For adulthood-onset cerebral form of adrenoleukodystrophy, however, there have been only a few reports on haematopoietic stem cell transplantation and the clinical efficacy and safety of that for adulthood-onset cerebral form of adrenoleukodystrophy remain to be established. To evaluate the clinical efficacy and safety of haematopoietic stem cell transplantation, we conducted haematopoietic stem cell transplantation on 12 patients with adolescent-/adult-onset cerebral form/cerebello-brainstem form of adrenoleukodystrophy in a single-institution-based prospective study.
View Article and Find Full Text PDFThe Spectrum of MR Imaging Patterns Suggestive of Pediatric Posterior Reversible Encephalopathy Syndrome in Children With Cerebral X-Linked Adrenoleukodystrophy.
J Neuroimaging
November 2020
Department of Radiology, University of Miami Miller School of Medicine, Miami, FL.
Background And Purpose: Children receiving chemotherapy, or immunosuppression have an increased risk for pediatric posterior reversible encephalopathy syndrome (pPRES); pPRES is scantly described in cerebral X-linked adrenoleukodystrophy (cALD) patients, for which hematopoietic stem cell transplantation improves outcomes. This study aimed to describe distinctive lesion patterns, distribution, and evolution of neuroimaging findings in PRES in a single-center pediatric cohort of cALD.
Methods: We retrospectively identified all clinically acquired brain MRIs of children with cALD at a tertiary care university hospital between 1995 and 2020.
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