Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

Authors: Emma Rybalka, Hyung Jun Park, Atchayaram Nalini, Dipti Baskar, Kiran Polavarapu, Hacer Durmus, Yang Xia, Linlin Wan, Perry B. Shieh, Behzad Moghadaszadeh, Alan H. Beggs, David L. Mack, Alec S. T. Smith, Wendy Hanna-Rose, Hyder A. Jinnah, Cara A. Timpani, Min Shen, Jaymin Upadhyay, Jeffrey J. Brault, Matthew D. Hall, Naveen Baweja, Priyanka Kakkar

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-18 (2024)

Subject Terms: Adenylosuccinate synthetase 1 myopathy, ADSS1 myopathy, Inborn error of metabolism, Purine disorder, Ultra-rare neuromuscular disease, Skeletal muscle, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/0dfb7f65052b4eb2a4a20ba5da9a4309

Dimethyl fumarate modulates the dystrophic disease program following short-term treatment

Authors: Cara A. Timpani, Stephanie Kourakis, Danielle A. Debruin, Dean G. Campelj, Nancy Pompeani, Narges Dargahi, Angelo P. Bautista, Ryan M. Bagaric, Elya J. Ritenis, Lauren Sahakian, Didier Debrincat, Nicole Stupka, Patricia Hafner, Peter G. Arthur, Jessica R. Terrill, Vasso Apostolopoulos, Judy B. de Haan, Nuri Guven, Dirk Fischer, Emma Rybalka

Source: JCI Insight, Vol 8, Iss 21 (2023)

Subject Terms: Muscle biology, Therapeutics, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2379-3708

Access URL: https://doaj.org/article/2f67a5d7f78e4aa7850dc5cf476bf2a1

Cachectic muscle wasting in acute myeloid leukaemia: a sleeping giant with dire clinical consequences

Authors: Dean G. Campelj, Cara A. Timpani, Emma Rybalka

Source: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 1, Pp 42-54 (2022)

Subject Terms: Acute myeloid leukaemia, Skeletal muscle, Cachexia, Chemotherapy, Cancer, Myopathy, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

File Description: electronic resource

Relation: https://doaj.org/toc/2190-5991; https://doaj.org/toc/2190-6009

Access URL: https://doaj.org/article/632a79ac6f604deca5984823f88e42de

Adenylosuccinic Acid Is a Non-Toxic Small Molecule In Vitro and In Vivo

Authors: Cara A. Timpani, Lorna Rasmussen, Emma Rybalka

Source: Pharmaceuticals, Vol 16, Iss 10, p 1458 (2023)

Subject Terms: adenylosuccinic acid, Duchenne muscular dystrophy, myopathy, metabolic disease, skeletal muscle, toxicology, Medicine, Pharmacy and materia medica, RS1-441

File Description: electronic resource

Relation: https://www.mdpi.com/1424-8247/16/10/1458; https://doaj.org/toc/1424-8247

Access URL: https://doaj.org/article/e2ad4744f58a472c8d5150ae8e014a45

Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better?

Authors: Stephanie Kourakis, Cara A. Timpani, Dean G. Campelj, Patricia Hafner, Nuri Gueven, Dirk Fischer, Emma Rybalka

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Subject Terms: Duchenne muscular dystrophy, Corticosteroids, Standard of care, Anti-inflammatory drugs, Anti-inflammation, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/f5cf0711b8b244ff9e7afbdbf56346c4

Adenylosuccinic Acid: An Orphan Drug with Untapped Potential

Authors: Emma Rybalka, Stephanie Kourakis, Charles A. Bonsett, Behzad Moghadaszadeh, Alan H. Beggs, Cara A. Timpani

Source: Pharmaceuticals, Vol 16, Iss 6, p 822 (2023)

Subject Terms: adenylosuccinic acid, adenylosuccinate, succinyl-AMP, Duchenne muscular dystrophy, ADSSL1 myopathy, metabolic disease, Medicine, Pharmacy and materia medica, RS1-441

File Description: electronic resource

Relation: https://www.mdpi.com/1424-8247/16/6/822; https://doaj.org/toc/1424-8247

Access URL: https://doaj.org/article/3bbab21ec2a1486fad4722e7e4297f21

Idebenone: When an antioxidant is not an antioxidant

Authors: Nuri Gueven, Pranathi Ravishankar, Rajaraman Eri, Emma Rybalka

Source: Redox Biology, Vol 38, Iss , Pp 101812- (2021)

Subject Terms: Idebenone, Antioxidant, Radical scavenger, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221323172031017X; https://doaj.org/toc/2213-2317

Access URL: https://doaj.org/article/0b1fdc8e056d402780e2d1a359797349

Targeting Nrf2 for the treatment of Duchenne Muscular Dystrophy

Authors: Stephanie Kourakis, Cara A. Timpani, Judy B. de Haan, Nuri Gueven, Dirk Fischer, Emma Rybalka

Source: Redox Biology, Vol 38, Iss , Pp 101803- (2021)

Subject Terms: Nrf2, Reactive oxygen species, Oxidative stress, Skeletal muscle, Hormesis, Duchenne muscular dystrophy, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213231720310089; https://doaj.org/toc/2213-2317

Access URL: https://doaj.org/article/83857b7e99724ea896f05d699258bce0

Therapeutic strategies to address neuronal nitric oxide synthase deficiency and the loss of nitric oxide bioavailability in Duchenne Muscular Dystrophy

Authors: Cara A. Timpani, Alan Hayes, Emma Rybalka

Source: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)

Subject Terms: Duchenne muscular dystrophy, Neuronal nitric oxide synthase, Nitric oxide, Skeletal muscle, mdx mouse, Clinical trials, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0652-y; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/69840234356347a5aa6ae011c312b55d

Co-treatment With BGP-15 Exacerbates 5-Fluorouracil-Induced Gastrointestinal Dysfunction

Authors: Rachel M. McQuade, Maryam Al Thaalibi, Aaron C. Petersen, Raquel Abalo, Joel C. Bornstein, Emma Rybalka, Kulmira Nurgali

Source: Frontiers in Neuroscience, Vol 13 (2019)

Subject Terms: chemotherapy, enteric neurons, 5-fluorouracil, BGP-15, neuroprotection, cytoprotection, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fnins.2019.00449/full; https://doaj.org/toc/1662-453X

Access URL: https://doaj.org/article/413f5b589d424d2e8fb4eb6cc83b7ee3

Metronomic 5-Fluorouracil Delivery Primes Skeletal Muscle for Myopathy but Does Not Cause Cachexia

Authors: Dean G. Campelj, Cara A. Timpani, Tabitha Cree, Aaron C. Petersen, Alan Hayes, Craig A. Goodman, Emma Rybalka

Source: Pharmaceuticals, Vol 14, Iss 5, p 478 (2021)

Subject Terms: chemotherapy, cachexia, 5-fluorouracil, skeletal muscle, p38, NF-B, Medicine, Pharmacy and materia medica, RS1-441

File Description: electronic resource

Relation: https://www.mdpi.com/1424-8247/14/5/478; https://doaj.org/toc/1424-8247

Access URL: https://doaj.org/article/6342e9ac95994fc6b9220770975e46b8

The Failed Clinical Story of Myostatin Inhibitors against Duchenne Muscular Dystrophy: Exploring the Biology behind the Battle

Authors: Emma Rybalka, Cara A. Timpani, Danielle A. Debruin, Ryan M. Bagaric, Dean G. Campelj, Alan Hayes

Source: Cells, Vol 9, Iss 12, p 2657 (2020)

Subject Terms: myostatin inhibition, Duchenne Muscular Dystrophy, skeletal muscle, muscle development, clinical trials, translation, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/9/12/2657; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/2c6703cccd9d49de9fcd3f0d6c2790da

Nitric Oxide (NO) and Duchenne Muscular Dystrophy: NO Way to Go?

Authors: Cara A. Timpani, Kamel Mamchaoui, Gillian Butler-Browne, Emma Rybalka

Source: Antioxidants, Vol 9, Iss 12, p 1268 (2020)

Subject Terms: Duchenne muscular dystrophy, metabolism, nitric oxide, nitrite, reactive oxygen species, superoxide, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3921/9/12/1268; https://doaj.org/toc/2076-3921

Access URL: https://doaj.org/article/15b0f89913394938afff0c23c436082a

Calming the (Cytokine) Storm: Dimethyl Fumarate as a Therapeutic Candidate for COVID-19

Authors: Cara A. Timpani, Emma Rybalka

Source: Pharmaceuticals, Vol 14, Iss 1, p 15 (2020)

Subject Terms: COVID-19, dimethyl fumarate, Nrf2, therapeutics, Medicine, Pharmacy and materia medica, RS1-441

File Description: electronic resource

Relation: https://www.mdpi.com/1424-8247/14/1/15; https://doaj.org/toc/1424-8247

Access URL: https://doaj.org/article/e86ffdad3262428b8222487edc2b50ef

Dimethyl Fumarate and Its Esters: A Drug with Broad Clinical Utility?

Authors: Stephanie Kourakis, Cara A. Timpani, Judy B. de Haan, Nuri Gueven, Dirk Fischer, Emma Rybalka

Source: Pharmaceuticals, Vol 13, Iss 10, p 306 (2020)

Subject Terms: clinical application, dimethyl fumarate, disease, fumaric acid esters, oxidative stress, inflammation, Medicine, Pharmacy and materia medica, RS1-441

File Description: electronic resource

Relation: https://www.mdpi.com/1424-8247/13/10/306; https://doaj.org/toc/1424-8247

Access URL: https://doaj.org/article/2e7350fa9ec64be49028730d3806aac5

Irinotecan-Induced Gastrointestinal Dysfunction Is Associated with Enteric Neuropathy, but Increased Numbers of Cholinergic Myenteric Neurons

Authors: Rachel M. McQuade, Vanesa Stojanovska, Elizabeth L. Donald, Ahmed A. Rahman, Dean G. Campelj, Raquel Abalo, Emma Rybalka, Joel C. Bornstein, Kulmira Nurgali

Source: Frontiers in Physiology, Vol 8 (2017)

Subject Terms: irinotecan, enteric neuropathy, cholinergic neurons, gastrointestinal dysfunction, chemotherapy, Physiology, QP1-981

File Description: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fphys.2017.00391/full; https://doaj.org/toc/1664-042X

Access URL: https://doaj.org/article/bbc7a1de09724135874d1850886900b7

The Effect of Vitamin D Supplementation on Skeletal Muscle in the mdx Mouse Model of Duchenne Muscular Dystrophy

Authors: Danielle A. Debruin, Nicola Andreacchio, Erik D. Hanson, Cara A. Timpani, Emma Rybalka, Alan Hayes

Source: Sports, Vol 7, Iss 5, p 96 (2019)

Subject Terms: 1,25(OH)2D: 1,25-dihydroxyvitamin D, 25(OH)D: 25-hydroxyvitamin D3, DMD: Duchenne Muscular Dystrophy, mdx: Duchenne Muscular Dystrophy Mouse Model, Skeletal muscle, Sports, GV557-1198.995

File Description: electronic resource

Relation: https://www.mdpi.com/2075-4663/7/5/96; https://doaj.org/toc/2075-4663

Access URL: https://doaj.org/article/e57f9974b01c42279c256b09a8c97845

Defects in mitochondrial ATP synthesis in dystrophin-deficient mdx skeletal muscles may be caused by complex I insufficiency.

Authors: Emma Rybalka, Cara A Timpani, Matthew B Cooke, Andrew D Williams, Alan Hayes

Source: PLoS ONE, Vol 9, Iss 12, p e115763 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4277356?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/b66dface4f9c4a94845bd988c3b693f1

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