Results 21 to 30 of about 2,165 (162)

Canavan Disease

Bokhari MR, Samanta D, Bokhari SRA.
europepmc   +3 more sources

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

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

Canavan disease

, 2005
Canavan disease (CD) is an autosomal recessive disorder, characterized by spongiform degeneration of the white matter of the brain. Aspartoacylase (ASPA) hydrolyses N-acetylaspartic acid to aspartate and acetate. Mutation of the gene results in enzyme deficiency to result CD.
openaire   +3 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

A rare case of a long-lived patient with Canavan syndrome

Brain Disorders
This case report describes the clinical case of a patient with Canavan Syndrome, a condition characterized by high mortality in infancy, who reached the age of 32.
Giuseppe Liardi, Salvatore Dongiovanni, Michelangelo Carucci, Valentina Andreozzi, Connye Mattera, Federica Quadro, Gennaro Calafiore, Sabrina Gentile, Nicoletta Liardi   +8 more
doaj   +1 more source

The role of MRI and MRS in the diagnosis of non hydrocephalic macrocrania in infancy and early childhood

The Egyptian Journal of Radiology and Nuclear Medicine, 2016
The aim of this study was to determine the key MRI findings in different disease causing macrocrania in early childhood that will help in early detection and diagnosis.
Dalia M. Moussa, Abdel Aziz El Nekeidy, Ahmed M. Abougabal, Tarek I. Omar, Tarek R. Saleh   +4 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Cutaneous and non‐cutaneous diseases due to Mycoplasma pneumoniae in children

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Mycoplasma pneumoniae (MP) is a common pathogen responsible for diverse infections in children and adolescents, primarily affecting the respiratory tract. Besides causing atypical pneumonia, MP can also lead to extrapulmonary manifestations, including mucocutaneous, hematological, neurological, cardiac, and gastrointestinal symptoms.
Hanna Lindemann, Maximilian David Mauritz, Victoria Rehmann, Michael Paulussen, Jorge Frank, Malik Aydin   +5 more
wiley   +1 more source