Albee Messing

Alexander Disease Research Update

Health EN ↓ 36 afleveringen

Monthly discussion of recent publications from the research literature on Alexander Disease, hosted by Albee Messing from the University of Wisconsin-Madison.

Bezoek zeker de website van de podcast en steun de maker: www.buzzsprout.com

Auteur

Albee Messing

Categorie

Health

Website van de podcast

www.buzzsprout.com

Nieuwste aflevering

16 sep. 2026

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Afleveringen

Alexander Disease Research Update - Episode #11: neurology 101 (location, location, location), discussion on the autonomic nervous system 05.08.2022 33:45

Send us Fan Mail 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 nervous system – part...

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 09.06.2022 34:04

Send us Fan Mail 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 your questions and feedback to: ...

Alexander Disease Research Update - Episode #9: new mechanisms of astrocyte dysfunction, case report with novel variant, commentary on head trauma as an aggravating factor 12.04.2022 41:27

Send us Fan Mail 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 dysfunction] [18:42] Kang YR et al....

Alexander Disease Research Update - Episode #8 - two case reports, natural history study of 21 pediatric patients, management of constipation 06.03.2022 23:54

Send us Fan Mail 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 Alexander disease . Radiology Case...

Alexander Disease Research Update - Episode #7 - common drugs tested in cell culture model; germline mosaicism vs de novo variants; electronic health records in research 27.01.2022 27:38

Send us Fan Mail 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). Parental Somatic Mosaicism Uncov...

Alexander Disease Research Update - Episode #6 - silent mutations, case report, new rat model, mouse proteomics 04.01.2022 47:48

Send us Fan Mail 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. (2021). Antisense therapy in a rat mod...

Alexander Disease Research Update - Episode #5 - case report with silent mutation and area postrema syndrome; neuropsychological testing 04.12.2021 26:19

Send us Fan Mail 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 aspects] [ full text ] [02:20] ...

Alexander Disease Research Update - Episode #4 - case report, clinical trials 26.10.2021 27:02

Send us Fan Mail 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 a discussion about outcomes and c...

Alexander Disease Research Update - Episode #3: crossing the blood-brain barrier 16.09.2021 37:22

Send us Fan Mail 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 and feedback to: axdrupodcast@waisman....

Alexander Disease Research Update - Episode #2: tumor-like lesions; very-late onset 13.08.2021 35:31

Send us Fan Mail 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-onset Alexander disease. Eur J Neurol (in pr...

Alexander Disease Research Update - Episode #1: genetic anticipation? 15.07.2021 26:22

Send us Fan Mail 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: axdrupodcast@waisman.wisc.edu Help support research on Alexander Disease a...