Faculty Publications

2025 Publications

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2025 Publications

January

Predicting the phenotype of Pompe Disease from features of GAA variants.

Peter Karachunski, Peter Kang.

European Journal of Human Genetics. 2025 Jan 7. https://doi.org/10.1038/s41431-024-01771-z

 

Distinguishing Chronic Inflammatory Demyelinating Polyneuropathy From Mimic Disorders: The Role of Statistical Modeling.

Jeffrey Allen.

Journal of the Peripheral Nervous System. 2025 Jan 12. https://doi.org/10.1111/jns.12682

 

Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5-Year Update.

Bradley Miller.

American Journal of Human Genetics. 2025 Jan 13. https://doi.org/10.1002/ajmg.a.63995

 

Impaired hydrogen sulfide biosynthesis underlies eccentric contraction-induced force loss in dystrophin-deficient skeletal muscle.

Dawn Lowe, James Ervasti.

The Journal of Clinical Investigation. 2025 Jan 14. https://doi.org/10.1172/jci176942

 

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

Christina Pacak, Peter Kang.

The FEBS Journal. 2025 Jan 16. https://doi.org/10.1111/febs.17406

 

Transcriptomic Profiling Reveals 17β-Estradiol Treatment Represses Ubiquitin-Proteasomal Mediators in Skeletal Muscle of Ovariectomized Mice.

Dawn Lowe.

Journal of Cachexia, Sarcopenia and Muscle. 2025 Jan 25. https://doi.org/10.1002/jcsm.13698

 

Editorial: Induced pluripotent stem cells (iPSCs) for skeletal muscle diseases.

Atsushi Asakura.

Frontiers in Cell and Developmental Biology. 2025 Jan 28. https://doi.org/10.3389/fcell.2025.1556403

 

Effect of Notch1 signaling on muscle engraftment and maturation from pluripotent stem cells.

Darko Bosnakovski, Rita Perlingeiro.

Stem Cell Reports. 2025 Jan 30. https://doi.org/10.1016/j.stemcr.2024.102396

February

A Practical Guide to Identify Patients With Multifocal Motor Neuropathy, a Treatable Immune-Mediated Neuropathy.

Jeffrey Allen.

Mayo Clinic Proceedings: Innovations, Quality & Outcomes. 2025 Feb. https://doi.org/10.1016/j.mayocpiqo.2023.12.002

 

Kinetics insight into the roles of the N- and C-lobes of calmodulin in RyR1 channel regulation.

David Thomas.

Journal of Biological Chemistry. 2025 Feb 2. https://doi.org/10.1016/j.jbc.2025.108258

 

When everything is a master regulator, nothing is

Michael Kyba.

Molecular Biology of the Cell. 2025 Feb 6. https://doi.org/10.1091/mbc.e24-11-0494

 

A study looking at how missed somatropin injections affect growth in children with growth hormone deficiency: a plain language summary of publication.

Bradley Miller.

Therapeutic Advances in Endocrinology and Metabolism. 2025 Feb 9. https://doi.org/10.1177/20420188241308446

 

Porcine myogenesis in cloned wildtype and MYF5/MYOD/MYF6-null porcine embryo.

Daniel Garry

Communications Biology. 2025 Feb 11. https://doi.org/10.1038/s42003-025-07648-1

 

The Second Decade of Neurology® Genetics Beckons.

Peter Kang

Neurology Genetics. 2025 Feb 11. https://doi.org/10.1212/nxg.0000000000200247

 

Multiphoton Microscopy to Visualize Live Renal Nerves in Reanimated Kidney Blocks.

Paul Iaizzo.

Journal of Imaging. 2025 Feb 13. https://doi.org/10.3390/jimaging11020056

 

High-resolution 3D visualization of human hearts with emphases on the cardiac conduction system components-a new platform for medical education, mix/virtual reality, computational simulation.

Paul Iaizzo

Frontiers in Medicine. 2025 Feb 17. https://doi.org/10.3389/fmed.2025.1507005

 

Efficacy and Safety of Zilucoplan in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial

David Walk.

JAMA Network Open. 2025 Feb 17. https://doi.org/10.1001/jamanetworkopen.2024.59058

 

CNM-Au8 in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial

David Walk.

JAMA Neurology. 2025 Feb 17. https://doi.org/10.1001/jama.2024.27643

 

Verdiperstat in Amyotrophic Lateral Sclerosis: Results From the Randomized HEALEY ALS Platform Trial.

David Walk.

JAMA Neurology. 2025 Feb 17. https://doi.org/10.1001/jamaneurol.2024.5249

 

Pridopidine in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial.

David Walk.

JAMA. 2025 Feb 17. https://doi.org/10.1001/jama.2024.26429https://doi.org/10.1001/jama.2024.26429

 

Stress exposure in the mdx mouse model of Duchenne muscular dystrophy provokes a widespread metabolic response.

James Ervasti.

The FEBS Journal. 2025 Feb 22. https://doi.org/10.1111/febs.70029

 

Human dystrophin tandem calponin homology actin-binding domain crystallized in a closed-state conformation.

James Ervasti.

Acta Crystallographica Section D - Structural Biology. 2025 Feb 26. https://doi.org/10.1107/s2059798325001457

 

Growth Response to Weekly Somapacitan Therapy in Children With GH Deficiency Is Related to GH Thresholds in GH Stimulation Testing.

Bradley Miller.

Journal of the Endocrine Society. 2025 Feb 27. https://doi.org/10.1210/jendso/bvaf038

March

Development of p300-targeting degraders with enhanced selectivity and onset of degradation.

Darko Bosnakovski, Michael Kyba.

RSC Medicinal Journal. 2025 Mar 3. https://doi.org/10.1039/d4md00969j

 

Do actin isoforms have unique functionalities at the protein level?

James Ervasti.

Nature Communications. 2025 Mar 7. https://doi.org/10.1038/s41467-025-57103-2

 

Single-Chain Nanobody Inhibition of Notch and Avidity Enhancement Utilizing the β-Pore-Forming Toxin Aerolysin.

Wendy Gordon

ACS Chemical Engineering. 2025 Mar 13. https://doi.org/10.1021/acschembio.4c00803

 

Feasibility and Reliability of a Monitoring App for Chronic Inflammatory Neuropathies.

Jeffrey Allen

Journal of the Peripheral Nervous System. 2025 Mar 18. https://doi.org/10.1111/jns.70005

 

The complete absence of cytoplasmic γ-actin results in no discernible phenotype in mice or primary fibroblasts.

James Ervasti

The FEBS Journal. 2025 Mar 20. https://doi.org/10.1111/febs.70075

 

Protocol for the three-dimensional analysis of rodent skeletal muscle.

Atsushi Asakura

STAR Protocols. 2025 Mar 21. https://doi.org/10.1016/j.xpro.2024.103549

 

Aurora A binds to the transactivation domain of c-Myc and recognizes the phosphorylated N-terminal degron motif.

David Thomas.

Biochemical Journal. 2025 Mar 28. https://doi.org/10.1042/bcj20240726

April

Time-to-event prediction in ALS using a landmark modeling approach, using the ALS Natural History Consortium dataset.

David Walk.

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 2025 Apr 2. https://doi.org/10.1080/21678421.2025.2482943

 

PAX translocations remodel mitochondrial metabolism through altered leucine usage in rhabdomyosarcoma.

Rita Perlingeiro.

Cell. 2025 Apr 3. https://doi.org/10.1016/j.cell.2025.03.008

 

Therapeutic application of extracellular vesicles in human diseases.

Paul Robbins.

Molecular Therapy. 2025 Apr 3. https://doi.org/10.1016/j.ymthe.2025.04.002

 

Three-Dimensional Analysis of Skeletal Muscle Stem Cell Niche Following Tissue Clearing.

Atsushi Asakura.

Methods in Molecular Biology. 2025 Apr 5. https://doi.org/10.1007/7651_2025_618