Results 11 to 20 of about 1,111 (177)

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   +8 more sources

Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease [PDF]

Cell & Bioscience
Canavan disease is an autosomal recessive and lethal neurological disorder, characterized by the spongy degeneration of the white matter in the brain. The disease is caused by a deficiency of the cytosolic aspartoacylase (ASPA) enzyme, which catalyzes ...
Martin Grønbæk-Thygesen, Rasmus Hartmann-Petersen   +1 more
doaj   +3 more sources

Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants [PDF]

Nature Communications
Unstable proteins are prone to form non-native interactions with other proteins and thereby may become toxic. To mitigate this, destabilized proteins are targeted by the protein quality control network. Here we present systematic studies of the cytosolic
Martin Grønbæk-Thygesen, Vasileios Voutsinos, Kristoffer E. Johansson, Thea K. Schulze, Matteo Cagiada, Line Pedersen, Lene Clausen, Snehal Nariya, Rachel L. Powell, Amelie Stein, Douglas M. Fowler, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen   +12 more
doaj   +3 more sources

A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report [PDF]

Journal of Pediatric Research
Glu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme. Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant.
Archana Vaddinahalli Kariyappa, Shilpa Krishnapura Lakshminarayana, Dhanalakshmi Kumble, Kavitha Siddappa, Kalpana Ramesh Yelsangikar, Mallesh Kariyappa, Thotakura Pranga Lakshmi, Ashwin Dalal   +7 more
doaj   +2 more sources

A Novel Mutation in Aspartoacylase Gene; Canavan Disease.

Iranian journal of child neurology, 2015
Objective Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. Aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination and brain edema. Although CD is a very common in Ashkenazi Jews patients, several cases have been reported from non-Jewish population. This report is based on a
ASHRAFI, Mahmoodreza, TAVASOLI, Alireza, KATIBEH, Pegah, ARYANI, Omid, VAFAEE-SHAHI, Mohammad   +4 more
openaire   +4 more sources

Structural modeling of p.V31F variant in the aspartoacylase gene

Metabolic Brain Disease, 2016
Aspartoacylase (ASPA) is an abundant enzyme in the brain, which catalyzes the conversion of N-acetylaspartate into acetate and aspartate, deficiency in its activity leads to degeneration of the white matter of the brain and is a recognized cause of Canavan disease (CD), which affect children.
Krishnamoorthy, Navaneethakrishnan, Zayed, Hatem   +1 more
openaire   +5 more sources

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,
Shahan Mamoor
openaire   +3 more sources

Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination

Neurobiology of Disease, 2010
Canavan disease (CD) is a neurodegenerative disease, caused by a deficiency in the enzyme aspartoacylase (ASPA). This enzyme has been localized to oligodendrocytes; however, it is still undefined how ASPA deficiency affects oligodendrocyte development ...
Cristina A Ghiani, Marcia Lloyd, Reuben Matalon   +2 more
exaly   +3 more sources

Aspartoacylase Supports Oxidative Energy Metabolism during Myelination [PDF]

Journal of Cerebral Blood Flow and Metabolism, 2012
The inherited leukodystrophy Canavan disease arises due to a loss of the ability to catabolize N-acetylaspartic acid (NAA) in the brain and constitutes a major point of focus for efforts to define NAA function. Accumulation of noncatabolized NAA is diagnostic for Canavan disease, but contrasts with the abnormally low NAA associated with compromised ...
Jeremy S Francis
exaly   +3 more sources

Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme

Metabolic Brain Disease, 2017
Aspartoacylase (ASPA) is a zinc-dependent abundant enzyme in the brain, which catalyzes the conversion of N-acetyl aspartate (NAA) into acetate and aspartate. Mutations in the ASPA gene are associated with the development of Canavan disease (CD), leading to the deficiency of ASPA activity.
C. George Priya Doss, Hatem Zayed
openaire   +5 more sources