Alexander Disease Research Update
Discussion of recent publications from the research literature on Alexander Disease, hosted by Albee Messing from the University of Wisconsin-Madison.
Episodes
34 episodes
AxDRU Episode #34: AxD rats have problems with eating and speaking
Albee Messing, Jared Cullen, and Nadine Connor discuss the following recent publication: Behavioral characterization of bulbar sensorimotor function in a rat model of Alexander disease ...
Alexander Disease Research Update – Episode #33: Can Initial MRI and Two Motor Milestones Predict Trajectory of Disease?
Albee Messing and Ylenia Vaia discuss the following recent publication: Neuroradiological patterns and prognostic implications in type I Alexander diseaseMolecular Genetics and Metabolism, 148, 110189 (...
Alexander Disease Research Update – Episode #32: 1) GFAP variants and oxidative stress, and 2) GFAP variants and lysosomes
Albee Messing, Dolores Pérez-Sala, and Natasha Snider discuss the following recent publications: Alexander disease mutations differentially sensitize glial fibrillary acidic protein (GFAP) to posttranslational m...
Alexander Disease Research Update – Episode #31: 1) Development of an AxD Severity Score, and 2) Peer review – please come home
Albee Messing, Annette Bley, and Nadia Kokaly discuss the following recent publication: [01:58] Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classi...
Alexander Disease Research Update – Episode #30: 1) Speech-language impairments, and 2) GFAP concentrations in CSF and blood
Albee Messing, Debra Levin, and Amy Waldman discuss the following recent publications: [01:27] Language Skills in Patients With Alexander Disease. American Journal of Sp...
Alexander Disease Research Update - Episode #29: Genotype-phenotype correlations, or does variant predict course?
Albee Messing and Amanda Nagy discuss the following recent publication: [01:42] Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypesMolecular Geneti...
Alexander Disease Research Update - Episode #28: GDF15, nausea, vomiting, and "failure to thrive"
Albee Messing, Tracy Hagemann, and Abby Olsen discuss the following recent publication: [01:45] Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated Wi...
Alexander Disease Research Update – Episode #27: Genotype-phenotype association for 14 GFAP variants
Albee Messing, Mel Feany, and Natasha Snider discuss the following recent publication: Genotype-phenotype association for 14 GFAP variants in Alexander disease. Neurology: Genetics. 11, e2...
Alexander Disease Research Update – Episode #26: Changes in gene expression and cognitive function in the rat model
Albee Messing, Tracy Hagemann, and Rob Berman discuss the following recent publication: [02:01] GFAP mutation and astrocyte dysfunction lead to a neurodegenerative profile with impaired...
Alexander Disease Research Update – Episode #25: GFAP Variants in the UK Biobank - estimated prevalence of adult-onset AxD
Albee Messing, Charlie Wade, and Mel Feany discuss the following recent publication: [01:50] Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of ...
Alexander Disease Research Update – Episode #24: 1) iPS cell model with aberrant development and 2) unusual variant in GFAP affecting the eye
Albee Messing and Natasha Snider discuss the following recent publications: [01:04] Aberrant neurodevelopment in human iPS cell-derived models of Alexander disease &nbs...
Alexander Disease Research Update - Episode #23: Albee Messing's presentation at the recent conference in Philadelphia
Albee Messing’s presentation at the recent Alexander disease conference in Philadelphia, August 3, 2024. Send your questions and feedback to: amessing@wisc.eduHelp su...
Alexander Disease Research Update - Episode #22: 1) anesthesia and AxD, and 2) GFAP cross-linking to itself
Albee Messing, Amy Waldman, and Natasha Snider discuss the following recent publications: [02:07] A retrospective observational cohort study of the anesthetic management and outcomes of...
Alexander Disease Research Update - Episode #21: 1) Blood levels of GFAP, neurofilaments, and tau, and 2) planning for in-person conference in Philadelphia this summer.
Albee Messing, Jenny Pearson, Natasha Snider, and Amy Waldman discuss the following recent publication and the conference planned for this summer in Philadelphia: [02:02] Plasma concentrations...
Alexander Disease Research Update - Episode #20: 3D bioprinting method for co-culture of neurons and astrocytes reveals new features of Alexander disease
Albee Messing and Linghai Kong discuss the following recent publication: [01:52] 3D bioprinting of human neural tissues with functional connectivity. Cell Stem Cell 31:260-274.e7 (...
Alexander Disease Research Update - Episode #19: Giant Axonal Neuropathy and Alexander Disease
Albee Messing, Rachel Battaglia, and Natasha Snider discuss the following publication: [00:59] Intermediate filament dysregulation in astrocytes in the human disease model of KLHL16 mutation i...
Alexander Disease Research Update - Episode #18: 1) Quantitative MRI in rat model, and 2) Developmental milestones in cerebral form of AxD
Albee Messing, Nick Stowe, JP Yu, and Amy Waldman discuss the following recent publications: [4:30] Stowe NA, Singh AP, Barnett BR, Yi SY, Frautschi PC, Messing A, et al....
Alexander Disease Research Update - Episode #17: 1) new iPS cell line, 2) acetylation and GFAP, and 3) STAT3 as a key regulator driving GFAP accumulation
Albee Messing, Rachel Battaglia, and Tracy Hagemann discuss the following recent publications: [01:45] A defined roadmap of radial glia and astrocyte differentiation from human pluripotent ste...
Alexander Disease Research Update - Episode #16: Webinar - Guangping Gao lab
Webinar on the strategy and preliminary results for “AAV-mediated Gene Silencing for the Treatment of Alexander Disease” presented by Drs. Guangping Gao, Jun Xie, and Dominic Gessler from the University of Massachusetts Medical School.
Alexander Disease Research Update - Episode #15: subclassifications of Type I; questions regarding 1) mesenchymal stem cells and 2) the intransasal route of delivery
Albee Messing and Davide Tonduti discuss the following recent publication: [00:41] Type I Alexander Disease: Update and Validation of the Clinical Evolution-Based ClassificationMolecul...
Alexander Disease Research Update - Episode #14: whole exome/genome sequencing; more questions on the brainstem
Albee Messing and Josh Bonkowsky discuss the following recent publication: [02:13] Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander dis...
Alexander Disease Research Update - Episode #13: MRI diffusion tractography - what can it tell us?
Albee Messing, Emi Takahashi, Arastoo Vossough, and Amy Waldman discuss the following recent publication: [02:03] Identificat...
Alexander Disease Research Update - Episode #12: GFAP variants and oxidative stress/mitochondrial dysfunction; commentary on dizziness, risks of brain biopsies
Albee Messing, Rachel Battaglia, and Abby Olsen discuss the following recent publication: [01:00] Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and...
Alexander Disease Research Update - Episode #11: neurology 101 (location, location, location), discussion on the autonomic nervous system
Albee Messing and Abby Olsen discuss the following recent publication: [03:04] Adult-onset Alexander disease: new causal sequence variant in the GFAP gene. (Neurology: Genetics, in pr...
Alexander Disease Research Update - Episode #10: effects of variants in the rod domain on GFAP assembly and aggregation, new ideas about functions of intermediate filaments
Albee Messing and Natasha Snider discuss the following recent publication: [04:44] Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filam...