Results 91 to 100 of about 1,754 (190)
Disease Management and Liability in the Human Genome Era [PDF]
, 2002 The completion of a rough draft of the Human Genome presents both tremendous potential for improvements in health care delivery and challenges to providing appropriate incentives that will bring forth new treatments while protecting individuals and ...
Palmer, Larry I.
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Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy [PDF]
, 2013 For most lysosomal storage diseases (LSDs) affecting the CNS, there is currently no cure. The BBB, which limits the bioavailability of drugs administered systemically, and the short half-life of lysosomal enzymes, hamper the development of effective ...
Albert Ribera +22 more
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PLoS ONE, 2013 Cancer is associated with globally hypoacetylated chromatin and considerable attention has recently been focused on epigenetic therapies. N-acetyl-L-aspartate (NAA), the primary storage form of acetate in the brain, and aspartoacylase (ASPA), the enzyme ...
Patrick M Long +7 more
doaj +1 more source
Alexander and Canavan Disease [PDF]
, 2014 How to Cite This Article: Shalbafan B. Alexander and Canavan Disease. Iran J Child Neurol.
SHALBAFAN, Bita
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Use of localized proton nuclear magnetic resonance spectroscopy in Canavan's disease
The Turkish Journal of Pediatrics, 1998 Canavan's disease is characterized by megalencephaly, leukodystrophy and early motor and mental retardation. On computerized tomography and magnetic resonance imaging, severe changes compatible with white matter disease due to demyelination is ...
N Aydinli, M Calişkan, M Calay, M Ozmen
doaj
Rat strain differences in brain structure and neurochemistry in response to binge alcohol [PDF]
, 2013 RATIONALE: Ventricular enlargement is a robust phenotype of the chronically dependent alcoholic human brain, yet the mechanism of ventriculomegaly is unestablished. Heterogeneous stock Wistar rats administered binge EtOH (3 g/kg intragastrically every
Bell, Richard L. +9 more
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The Clinical Features and Diagnosis of Canavan’s Disease: A Case Series of Iranian Patients [PDF]
, 2014 How to Cite This Article: Karimzadeh P, Jafari N, Nejad Biglari H, Rahimian E, Ahmadabadi F, Nemati H, Nasehi MM, Ghofrani M, Mollamohammadi M. The Clinical Features and Diagnosis of Canavan’s Disease: A Case Series of Iranian Patients.
AHMADABADI, Farzad +8 more
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Structural insights into aspartoacylase deficiency in Canavan disease (769.4)
The FASEB Journal, 2014 Canavan disease (CD) is a fatal neurodegenerative disorder with impaired N‐acetyl‐L‐aspartic acid (NAA) metabolism. This disease is caused by mutations in the ASPA gene, leading to a deficiency in the aspartoacylase (ASPA) enzyme that hydrolyzes NAA in the brain.
Yasanandana Wijayasinghe +2 more
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Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease [PDF]
, 2018 We review the putative functions and malfunctions of proteins encoded by genes mutated in Charcot-Marie-Tooth disease (CMT; inherited motor and sensory neuropathies) in normal and affected peripheral nerves. Some proteins implicated in demyelinating CMT,
Berger, Philipp +2 more
core
Differential expression of aspartoacylase in cancers of the breast.
, 2021 Breast cancer affects women at relatively high frequency (1). We mined published microarray datasets (2, 3) to determine in an unbiased fashion and at the systems level genes most differentially expressed in the primary tumors of patients with breast cancer. We report here significant differential expression of the gene encoding aspartoacylase, ASPA,
openaire +2 more sources