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Aspartoacylase suppresses prostate cancer progression by blocking LYN activation
BackgroundGlobally, despite prostate cancer (PCa) representing second most prevalent malignancy in male, the precise molecular mechanisms implicated...
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Canavan’s spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature
Canavan disease (CD; MIM 271,900) or spongy degeneration of the central nervous system (CNS) is a lethal, rare autosomal recessive leukodystrophy,...
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The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility
IntroductionCanavan disease (CD) is a rare autosomal recessive neurodegenerative disorder caused by a deficiency of aspartoacylase A, an enzyme that...
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Update on leukodystrophies and develo** trials
Leukodystrophies are a heterogeneous group of rare genetic disorders primarily affecting the white matter of the central nervous system. These...
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Genetische Befunde in der Versorgungspsychiatrie
In psychiatry, owing to advancing medical diagnostics, patients are increasingly presenting with genetic findings, examples of which are mentioned...
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Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature
BackgroundAminoacylase-1 deficiency (ACY1D) is an autosomal recessive rare inborn error of metabolism, which is caused by disease-causing variants in...
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Characterizing cerebral metabolite profiles in anorexia and bulimia nervosa and their associations with habitual behavior
Anorexia nervosa (AN) and bulimia nervosa (BN) are associated with altered brain structure and function, as well as increased habitual behavior. This...
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Clinical 1H MRS in childhood neurometabolic diseases — part 2: MRS signatures
Proton MRS of the brain provides the ability to gather direct information regarding the metabolic status of the brain at the time of MRI. Although...
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The natural history of Canavan disease: 23 new cases and comparison with patients from literature
BackgroundCanavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could...
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Induced pluripotent stem cells (iPSCs): molecular mechanisms of induction and applications
The induced pluripotent stem cell (iPSC) technology has transformed in vitro research and holds great promise to advance regenerative medicine. iPSCs...
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Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy
N -Acetylaspartate (NAA) is the second most abundant organic metabolite in the brain, but its physiological significance remains enigmatic. Toxic NAA...
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Inter-laboratory adaption of age estimation models by DNA methylation analysis—problems and solutions
In recent years, a lot of age prediction models based on different CpG motives in different cell types were published determining the biological age...
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Neurological manifestations of organic acidurias
Organic acidurias (OADs) are inherited neurometabolic diseases largely caused by deficiencies in enzymes involved in amino acid degradation, which...
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DNA methylation levels and telomere length in human teeth: usefulness for age estimation
In the last decade, increasing knowledge of epigenetics has led to the development of DNA methylation-based models to predict age, which have shown...
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Adeno-associated virus as a delivery vector for gene therapy of human diseases
Adeno-associated virus (AAV) has emerged as a pivotal delivery tool in clinical gene therapy owing to its minimal pathogenicity and ability to...
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Prospects for the Use of Genome-Editing Technology to Correct Neurodegenerative Diseases
AbstractThe review analyzes the results of modern studies that involve gene therapy methods for the correction of neurodegenerative diseases....
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Ventral midbrain astrocytes display unique physiological features and sensitivity to dopamine D2 receptor signaling
Astrocytes are ubiquitous CNS cells that support tissue homeostasis through ion buffering, neurotransmitter recycling, and regulation of CNS...
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Current and Future Treatments for Lysosomal Storage Disorders
Purpose of review Lysosomal storage disorders (LSDs) are a class of genetic disorders that are a testing ground for the invention of novel...