Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Maaike van Putten"'
Autor:
Mathilde Doisy, Ophélie Vacca, Claire Fergus, Talia Gileadi, Minou Verhaeg, Amel Saoudi, Thomas Tensorer, Luis Garcia, Vincent P. Kelly, Federica Montanaro, Jennifer E. Morgan, Maaike van Putten, Annemieke Aartsma-Rus, Cyrille Vaillend, Francesco Muntoni, Aurélie Goyenvalle
Publikováno v:
Biomedicines, Vol 11, Iss 12, p 3243 (2023)
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene that disrupt the open reading frame and thus prevent production of functional dystrophin proteins. Recent advances in DMD treatment, notably exon skipping and AAV gene therapy,
Externí odkaz:
https://doaj.org/article/29a1434a711345e993444660698a38fe
Autor:
Gerard A. Marchal, Maaike van Putten, Arie O. Verkerk, Simona Casini, Kayleigh Putker, Shirley C. M. van Amersfoorth, Annemieke Aartsma-Rus, Elisabeth M. Lodder, Carol Ann Remme
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder caused by loss of dystrophin. This lack also affects cardiac structure and function, and cardiovascular complications are a major cause of death in DMD. Newly develope
Externí odkaz:
https://doaj.org/article/e66d62ff25c047aab32a8e28fe2c4a19
Autor:
Maaike van Putten
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 7 (2022)
Neuromuscular disorders (NMDs) are a heterogenous group of rare inherited diseases that compromise the function of peripheral nerves and/or muscles. With limited treatment options available, there is a growing need to design effective preclinical stu
Externí odkaz:
https://doaj.org/article/8ec2d06e01fc457ba19f76a31a33b615
Autor:
Sheng Li, Milena Schönke, Jacobus C. Buurstede, Tijmen J.A. Moll, Max Gentenaar, Maaike Schilperoort, Jenny A. Visser, Kasiphak Kaikaew, Davy van de Vijver, Tooba Abbassi-Daloii, Vered Raz, Annemieke Aartsma-Rus, Maaike van Putten, Onno C. Meijer, Jan Kroon
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Muscle atrophy is common in patients with increased glucocorticoid exposure. Glucocorticoid effects are often sex-specific, and while different glucocorticoid responses between male and female subjects are reported, it is unclear why this is. In this
Externí odkaz:
https://doaj.org/article/946e91433eb44975b8e7480eca6ca3bc
Publikováno v:
Frontiers in Behavioral Neuroscience, Vol 14 (2021)
Duchenne muscular dystrophy (DMD) is a severe, progressive neuromuscular disorder caused by mutations in the DMD gene resulting in loss of functional dystrophin protein. The muscle dystrophin isoform is essential to protect muscles from contraction-i
Externí odkaz:
https://doaj.org/article/576239c750bc4b60925f8ffd945a434c
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
Neuromuscular disorders (NMDs) encompass a diverse group of genetic diseases characterized by loss of muscle functionality. Despite extensive efforts to develop therapies, no curative treatment exists for any of the NMDs. For multiple disorders, howe
Externí odkaz:
https://doaj.org/article/2b5a4a1a8ba64eefa20926f91af62f11
Autor:
Maaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. Grounds, Annemieke Aartsma-Rus, James Dowling
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
Muscular dystrophies (MDs) encompass a wide variety of inherited disorders that are characterized by loss of muscle tissue associated with a progressive reduction in muscle function. With a cure lacking for MDs, preclinical developments of therapeuti
Externí odkaz:
https://doaj.org/article/be4ae17280f34ef1b25bb64a7e091428
Autor:
Phillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. Feldman, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
Peripheral neuropathy (PN) is a complication of prediabetes and type 2 diabetes (T2D). Increasing evidence suggests that factors besides hyperglycaemia contribute to PN development, including dyslipidaemia. The objective of this study was to determin
Externí odkaz:
https://doaj.org/article/a851f0c85a1f46e2807311fb54f9c5f8
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
For many genetic diseases, researchers are developing personalized medicine approaches. These sometimes employ custom genetic interventions such as antisense-mediated exon skipping or genome editing, aiming to restore protein function in a mutation-s
Externí odkaz:
https://doaj.org/article/9a55427efd994412af34cf2720b2636b
Autor:
Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
ATP7A encodes a copper-transporting P-type ATPase and is one of 23 genes in which mutations produce distal hereditary motor neuropathy (dHMN), a group of diseases characterized by length-dependent axonal degeneration of motor neurons. We have generat
Externí odkaz:
https://doaj.org/article/96cf025b67e84cd9944cad361424728a