Results 31 to 40 of about 2,664 (184)

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

Scientific Reports, 2021
This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh, Mahdieh Soveizi, Ali Reza Tavasoli, Ali Rabbani, Mahmoud Reza Ashrafi, Alfried Kohlschütter, Bahareh Rabbani   +6 more
doaj   +1 more source

Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease. [PDF]

PLoS ONE, 2011
Canavan Disease (CD) is a recessive leukodystrophy caused by loss of function mutations in the gene encoding aspartoacylase (ASPA), an oligodendrocyte-enriched enzyme that hydrolyses N-acetylaspartate (NAA) to acetate and aspartate.
Nadine Mersmann, Dmitri Tkachev, Ruth Jelinek, Philipp Thomas Röth, Wiebke Möbius, Torben Ruhwedel, Sabine Rühle, Wolfgang Weber-Fahr, Alexander Sartorius, Matthias Klugmann   +9 more
doaj   +1 more source

N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase

Neurobiology of Disease, 2016
Breakdown of neuro-glial N-acetyl-aspartate (NAA) metabolism results in the failure of developmental myelination, manifest in the congenital pediatric leukodystrophy Canavan disease caused by mutations to the sole NAA catabolizing enzyme aspartoacylase ...
Jeremy S. Francis, PhD, Ireneusz Wojtas, PhD, Vladimir Markov, MD, Steven J. Gray, PhD, Thomas J. McCown, PhD, R. Jude Samulski, PhD, Larissa T. Bilaniuk, MD, Dah-Jyuu Wang, PhD, Darryl C. De Vivo, MD, Christopher G. Janson, MD, Paola Leone, PhD   +10 more
doaj   +1 more source

Developing a human iPSC-derived three-dimensional myelin spheroid platform for modeling myelin diseases

iScience, 2023
Summary: Myelin defects cause a collection of myelin disorders in the brain. The lack of human models has limited us from better understanding pathological mechanisms of myelin diseases. While human induced pluripotent stem cell (hiPSC)-derived spheroids
Lizhao Feng, Jianfei Chao, Mingzi Zhang, Elizabeth Pacquing, Weidong Hu, Yanhong Shi   +5 more
doaj   +1 more source

Restoring Immunological Tolerance via Dendritic Cells in Rheumatoid Arthritis. [PDF]

Eur J Immunol
This review examines the failure of peripheral immune tolerance as the initiating factor in rheumatoid arthritis (RA), focusing on the role of dendritic cells. It discusses strategies to convert these cells from immunogenic to tolerogenic states, while also exploring emerging research on the anatomical sites where this critical loss of tolerance occurs.
Costello H, Woodcock A, Canavan M.
europepmc   +2 more sources

Developing Hypoimmunogenic Human iPSC‐Derived Oligodendrocyte Progenitor Cells as an Off‐The‐Shelf Cell Therapy for Myelin Disorders

Advanced Science, 2023
Demyelinating disorders are among the most common and debilitating diseases in neurology. Canavan disease (CD) is a lethal demyelinating disease caused by mutation of the aspartoacylase (ASPA) gene, which leads to the accumulation of its substrate N ...
Lizhao Feng, Jianfei Chao, Peng Ye, Qui Luong, Guoqiang Sun, Wei Liu, Qi Cui, Sergio Flores, Natasha Jackson, Afm Nazmul Hoque Shayento, Guihua Sun, Zhenqing Liu, Weidong Hu, Yanhong Shi   +13 more
doaj   +1 more source

Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

, 2010
Genetic testing for Tay-Sachs and Canavan disease is particularly important for Ashkenazi Jews, because both conditions are more frequent in that population. This comparative case study was possible because of different patenting and licensing practices.
Chandrasekharan, Subhashini, Cook-Deegan, Robert, Colaianni, Alessandra   +2 more
core   +1 more source

Long-term follow-up after gene therapy for canavan disease. [PDF]

Sci Transl Med, 2012
Canavan disease is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to loss of enzyme activity and increased concentrations of the substrate N-acetylaspartate (NAA) in the brain.
Leone P, Shera D, McPhee SW, Francis JS, Kolodny EH, Bilaniuk LT, Wang DJ, Assadi M, Goldfarb O, Goldman HW, Freese A, Young D, During MJ, Samulski RJ, Janson CG.   +14 more
europepmc   +2 more sources

Mapping the degradation pathway of a disease-linked aspartoacylase variant.

PLoS Genetics, 2021
Canavan disease is a severe progressive neurodegenerative disorder that is characterized by swelling and spongy degeneration of brain white matter.
Sarah K Gersing, Yong Wang, Martin Grønbæk-Thygesen, Caroline Kampmeyer, Lene Clausen, Martin Willemoës, Claes Andréasson, Amelie Stein, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen   +9 more
doaj   +1 more source

Estimating the minimal cost of delivering nutrition‐specific and nutrition‐sensitive interventions in Ethiopia

Maternal &Child Nutrition, EarlyView.
The minimum cost of the 10 years on identified nutrition‐specific and nutrition‐sensitive interventions of the National Food and Nutrition Strategy in Ethiopia is estimated to be US$ 2.55bn with an average annual cost of $250 million over 10 years (2021–2030), which is only 2.3% of the Ethiopian Annual GDP 111.27 billion US dollars in 2021 (World bank).
Yetayesh Maru, Firehiwot Mesfin, Arnaud Laillou, Ramadhani Noor, Shiva Raj Adhikari, Meseret Zelalem, Hiwot Darsene, Solomon Memire, Andarge Abie, Stanley Chitekwe   +9 more
wiley   +1 more source