Monthly discussion of recent publications from the research literature on Alexander Disease, hosted by Albee Messing from the University of Wisconsin-Madison.
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Albee Messing Podcasts
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Alexander Disease Research Update - Episode #28: GDF15, nausea, vomiting, and "failure to thrive"
26:29
26:29
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26:29Send us a text 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 With Failure to Thrive in Alexander Disease Annals of Clinical and Translational Neurology (in press) [full text] Send your questions and feedback to: a…
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Alexander Disease Research Update – Episode #27: Genotype-phenotype association for 14 GFAP variants
32:15
32:15
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32:15Send us a text 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, e200270 (2025) [full text] Send your questions and feedback to: [email protected] Help support research on Alexander Disease at the University of Wis…
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Alexander Disease Research Update – Episode #26: Changes in gene expression and cognitive function in the rat model
28:56
28:56
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28:56Send us a text 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 synaptic plasticity and cognitive deficits in a rat model of Alexander disease eNeuro (in press) [full text] Send your questions and feedback to: ame…
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Alexander Disease Research Update – Episode #25: GFAP Variants in the UK Biobank - estimated prevalence of adult-onset AxD
27:21
27:21
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27:21Send us a text 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 adult-onset Alexander disease Journal of Neurology, Neurosurgery, and Psychiatry (in press) Please send your questions and feedback to: amessing@wisc.…
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Alexander Disease Research Update – Episode #24: 1) iPS cell model with aberrant development and 2) unusual variant in GFAP affecting the eye
28:32
28:32
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28:32Send us a text Albee Messing and Natasha Snider discuss the following recent publications: [01:04] Aberrant neurodevelopment in human iPS cell-derived models of Alexander disease Glia (2024) (in press) [16:46] A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment Human Molecular Genetics (2024) (…
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Alexander Disease Research Update - Episode #23: Albee Messing's presentation at the recent conference in Philadelphia
22:22
22:22
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22:22Send us a text Albee Messing’s presentation at the recent Alexander disease conference in Philadelphia, August 3, 2024. Send your questions and feedback to: [email protected] Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/…
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Alexander Disease Research Update - Episode #22: 1) anesthesia and AxD, and 2) GFAP cross-linking to itself
20:46
20:46
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20:46Send us a text 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 pediatric patients with Alexander disease undergoing lumbar puncture or magnetic resonance imaging Paediatric Anesthessia (in press) [10:17] Glial fi…
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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.
15:21
15:21
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15:21Send us a text 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 of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease Neurological Sciences (2024) [full text] [04:16] Discuss…
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Alexander Disease Research Update - Episode #20: 3D bioprinting method for co-culture of neurons and astrocytes reveals new features of Alexander disease
15:37
15:37
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15:37Send us a text 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 (2024) [full text] Send your questions and feedback to: [email protected] Help support research on Alexander Disease at the University of Wisconsin-Madison'…
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Alexander Disease Research Update - Episode #19: Giant Axonal Neuropathy and Alexander Disease
18:24
18:24
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18:24Send us a text 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 in giant axonal neuropathy (GAN) Molecular Biology of the Cell (in press) [full text - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846626/] S…
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Alexander Disease Research Update - Episode #18: 1) Quantitative MRI in rat model, and 2) Developmental milestones in cerebral form of AxD
28:42
28:42
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28:42Send us a text 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. Quantitative diffusion imaging and genotype-by-sex interactions in a rat model of Alexander disease. Magnetic Resonance in Medicine (2023) in press [15:11] Acquisit…
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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
24:11
24:11
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24:11Send us a text 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 stem cells Stem Cell Reports 18, 1701-1720 (2023) [includes new iPS cell line from an individual with Alexander disease] [full text] [05:39] Isola…
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Alexander Disease Research Update - Episode #16: Webinar - Guangping Gao lab
1:08:57
1:08:57
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1:08:57Send us a text 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. This version is audio only - the full video version will be made available later at a site that is …
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Alexander Disease Research Update - Episode #15: subclassifications of Type I; questions regarding 1) mesenchymal stem cells and 2) the intransasal route of delivery
20:25
20:25
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20:25Send us a text Albee Messing and Davide Tonduti discuss the following recent publication: [00:41] Type I Alexander Disease: Update and Validation of the Clinical Evolution-Based Classification Molecular Genetics and Metabolism 138, 107540, 2023 [16:01] Questions from email regarding mesenchymal stem cells for transplantation and the intranasal rout…
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Alexander Disease Research Update - Episode #14: whole exome/genome sequencing; more questions on the brainstem
18:17
18:17
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18:17Send us a text 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 disease by whole-exome sequencing.European Journal of Medical Research 27, 174 (2022) [full text] [14:20] Questions from email regarding the brainstem in A…
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Alexander Disease Research Update - Episode #13: MRI diffusion tractography - what can it tell us?
16:35
16:35
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16:35Send us a text Albee Messing, Emi Takahashi, Arastoo Vossough, and Amy Waldman discuss the following recent publication: [02:03] Identification of association fibers using ex vivo diffusion tractography in Alexander disease brains Journal of Neuroimaging (in press) Send your questions and feedback to: [email protected]…
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Alexander Disease Research Update - Episode #12: GFAP variants and oxidative stress/mitochondrial dysfunction; commentary on dizziness, risks of brain biopsies
25:25
25:25
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25:25Send us a text 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 elicits mitochondrial dysfunction and oxidative stress (Redox Biology, 55:102415, 2022) [14:23] Questions from email regarding 1) dizziness and 2) ris…
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Alexander Disease Research Update - Episode #11: neurology 101 (location, location, location), discussion on the autonomic nervous system
33:45
33:45
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33:45Send us a text 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 press) [14:15] Autonomic nervous system – part 1 [26:09] Questions from email regarding connecting spinal cord problems and symptoms. [31:17] Autonomic ne…
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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
34:04
34:04
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34:04Send us a text 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 filaments (Molecular Biology of the Cell, in press) [28:53] Questions from email regarding heritability, penetrance, and skipping generations. Send …
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Alexander Disease Research Update - Episode #9: new mechanisms of astrocyte dysfunction, case report with novel variant, commentary on head trauma as an aggravating factor
41:27
41:27
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41:27Send us a text Albee Messing, Mel Feany, Florian Eichler, and Ming der Perng discuss the following recent publications: [02:21] Wang L et al. (2022) Anastasis drives senescence and non-cell autonomous neurodegeneration in the astrogliopathy Alexander disease. Journal of Neuroscience (in press) [reports interesting new mechanisms of astrocyte dysfun…
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Alexander Disease Research Update - Episode #8 - two case reports, natural history study of 21 pediatric patients, management of constipation
23:54
23:54
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23:54Send us a text Albee Messing and Amy Waldman discuss the following recent publications: [01:08] Mateos et al. (2022). Developmental delay and progressive seizures in 2-month-old child with diffuse MRI abnormalities. Brain Pathology e13049 [06:21] Takeuchi et al. (2022) GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal A…
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Alexander Disease Research Update - Episode #7 - common drugs tested in cell culture model; germline mosaicism vs de novo variants; electronic health records in research
27:38
27:38
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27:38Send us a text Albee Messing and Michael Brenner discuss the following recent publications: [01:01] Bachetti T et al. (2021). Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease. Frontiers in Pharmacology 12, 723218 [full text] [06:10] Grossi A et al. (2021). Pa…
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Alexander Disease Research Update - Episode #6 - silent mutations, case report, new rat model, mouse proteomics
47:48
47:48
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47:48Send us a text Albee Messing, Rachel Battaglia, and Peter Todd discuss the following recent publications: But first, revisiting the issue of “silent” mutations. [05:02] Xu, S.Y. et al. (2021). Type II Alexander disease with fragile X mental retardation 1 gene mutation. Clinical Neurology and Neurosurgery 211, 107023 [18:25] Hagemann, T.L. et al. (2…
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Alexander Disease Research Update - Episode #5 - case report with silent mutation and area postrema syndrome; neuropsychological testing
26:19
26:19
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26:19Send us a text Albee Messing, Amy Waldman, and Nina Thomas discuss the following recent publications: [01:28] Srivastava S, Waldman A, Naidu S (2020) Alexander disease. In: GeneReviews(®) (Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, eds). Seattle (WA): University of Washington, Seattle [review, focusing on clinical as…
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Alexander Disease Research Update - Episode #4 - case report, clinical trials
27:02
27:02
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27:02Send us a text Albee Messing and Amy Waldman discuss the following recent publication: [00:40] Amano E, Yoshida T, Mizuta I, Oyama J, Sakashita S, Ueyama S, Machida A, Yokota T. (2021). Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease. Neurology Genetics. 7, e626 PMCID: PMC8488758 Florian Eichler joins for…
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Alexander Disease Research Update - Episode #3: crossing the blood-brain barrier
37:22
37:22
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37:22Send us a text Albee Messing, Berit Powers and Rachel Battaglia discuss the following recent publication: [4:11] Nagata T et al. (2021). Cholesterol-functionalized DNA/RNA heteroduplexes cross the blood-brain barrier and knock down genes in the rodent CNS. Nat Biotechnol. (in press) PMID: 34385691 [26:30] Questions from email Send your questions an…
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Alexander Disease Research Update - Episode #2: tumor-like lesions; very-late onset
35:31
35:31
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35:31Send us a text Albee Messing and Amy Waldman discuss: [1:21] Cai T, Jing S, Li Y, Wu J. 2021. A Case Report of Adult-Onset Alexander Disease with a Tumor-Like Lesion in the Lateral Ventricle. Case Rep Neurol 13:355-360. PMCID: PMC8255748 [7:45} Yoshida T, Mizuta I, Yasuda R, Mizuno T. 2021. Clinical and radiological characteristics of older-adult-o…
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Alexander Disease Research Update - Episode #1: genetic anticipation?
26:22
26:22
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26:22Send us a text Albee Messing and Michael Brenner discuss: Hunt, CK, et al. Does genetic anticipation occur in familial Alexander disease? (2021). Neurogenetics (in press) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241638/ https://medlineplus.gov/genetics/understanding/inheritance/anticipation/ Send your questions to: [email protected]…
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