Results 21 to 30 of about 11,007 (197)

A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination

Disease Models & Mechanisms, 2014
Canavan disease is a leukodystrophy caused by mutations in the ASPA gene. This gene encodes the enzyme that converts N-acetylaspartate into acetate and aspartic acid.
Marina R. Carpinelli, Anne K. Voss, Michael G. Manning, Ashwyn A. Perera, Anne A. Cooray, Benjamin T. Kile, Rachel A. Burt   +6 more
doaj   +1 more source

Canavan's disease [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2004
Myrtelle May Canavan (1879–1953) described a progressive familial spongy degeneration of the cerebral white matter.1 Since van Bogaert and Bertrand2,3 also described the condition, and established its nosology, it is known as Canavan’s disease or, van Bogaert–Bertrand2,4 syndrome. Myrtelle Canavan was an American neuropathologist, born 24 June 1879 in
openaire   +2 more sources

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

Canavan Disease

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

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

Correlates of Complete Childhood Vaccination in East African Countries. [PDF]

, 2014
Despite the benefits of childhood vaccinations, vaccination rates in low-income countries (LICs) vary widely. Increasing coverage of vaccines to 90% in the poorest countries over the next 10 years has been estimated to prevent 426 million cases of ...
A Clark, B Shengelia, BJ Coleman, C Horwood, CE Stein, CJL Murray, D Antai, D Hosmer, D Sia, E Bradley, Elizabeth H. Bradley, FT Cutts, G Maldonado, Getnet M. Kassie, Heather L. Sipsma, Jodie McVernon, M Nimpagaritse, Maureen E. Canavan, ML Stack, R Brugha, RP Pande, S Lewin, S Ozawa, SO Gyimah, SS Lim, W Wakabi, YS Kusuma, ZA Bhutta   +27 more
core   +6 more sources

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

Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: Accurate postnatal diagnosis and the potential for prenatal diagnosis of canavan disease [PDF]

, 1991
A sensitive and selective analytical technique is described for the determination of N-acetylaspartic acid in body fluids using stable isotope dilution in combination with positive chemical ionization mass spectrometry with selected ion monitoring ...
Brink, H.J. (H.) ten, Jakobs, C. (Cornelis), Kleijer, W.J. (Wim), Langelaar, M.F.M. (Merel), Macek, M. (Milan MI), Sršeň, S. (S.), Sršňová, K. (K.), Stellaard, F. (Frans), Zee, T. (Tom)   +8 more
core   +1 more source

Calculating total health service utilisation and costs from routinely collected electronic health records using the example of patients with irritable bowel syndrome before and after their first gastroenterology appointment [PDF]

, 2015
INTRODUCTION: Health economic models are increasingly important in funding decisions but most are based on data, which may therefore not represent the general population.
A Basu, A Brennan, A Lafuma, A Lafuma, A Ruigómez, AC Ford, AH Briggs, B Groot Koerkamp, BE Lacy, C Canavan, C Canavan, C Deschaseaux-Voinet, C Record, C Reed, Caroline Canavan, CJ Bijkerk, Department of Health, E Herrett, F King, F Windmeijer, GD Smith, GF Longstreth, H Quan, IM Carey, IM Carey, J Hong, JA Kopec, JJ Caro, JJ Caro, Joe West, L Curtis, M Asaria, M Violato, MC Gulliford, N Shi, NE Wells, NF Khan, P Denis, P Dolan, R Boggon, RI Griffiths, SL Brilleman, T Williams, T-P Staa Van, T-P Staa Van, T-P Staa Van, Timothy Card, WG Thompson, Y-C Chen, Z Philips   +49 more
core   +2 more sources