HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
Improving TSP Solutions Using GA with a New Hybrid Mutation Based on Knowledge and Randomness [PDF]
arXiv, 2018 Genetic algorithm (GA) is an efficient tool for solving optimization problems by evolving solutions, as it mimics the Darwinian theory of natural evolution. The mutation operator is one of the key success factors in GA, as it is considered the exploration operator of GA.
arxiv
LETHALITY PATTERNS AND MORPHOLOGY OF SELECTED LETHAL AND SEMI-LETHAL MUTATIONS IN THE ZESTE-WHITE REGION OF DROSOPHILA MELANOGASTER [PDF]
, 1972 M P Shannon +3 more
openalex +1 more source
Occurrence, Risk Factors, and Prognosis of Acute Cerebral Microinfarcts in CADASIL
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic cerebral small vessel disease in adults. This study investigates the occurrence, risk factors, and prognosis of acute cerebral microinfarcts (ACMIs) in patients with CADASIL.
Xuejiao Men +11 more
wiley +1 more source
Fixation of mutators in asexual populations: the role of genetic drift and epistasis [PDF]
Evolution 67, 1143 (2013), 2012 We study the evolutionary dynamics of an asexual population of nonmutators and mutators on a class of epistatic fitness landscapes. We consider the situation in which all mutations are deleterious and mutators are produced from nonmutators continually at a constant rate.
arxiv
CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu +12 more
wiley +1 more source
Maximum likelihood (ML) estimators for scaled mutation parameters with a strand symmetric mutation model in equilibrium [PDF]
arXiv, 2019 With the multiallelic parent-independent mutation-drift model, the equilibrium proportions of alleles are known to be Dirichlet distributed. A special case is the biallelic model, in which the proportions are beta distributed. A sample taken from these models is then Dirichlet-multinomially or beta-binomially distributed, respectively.
arxiv
Future trends in Animal Breeding due to new genetic tecnologies
, 2011 The Darwin theory of evolution by natural selection is based on three principles: (a) variation; (b) inheritance; and (c) natural selection. Here, I take these principles as an excuse to review some topics related to the future research prospects in ...
Toro Ibañez, Miguel Angel
core +1 more source
Mutation of the RIIβ Subunit of Protein Kinase A Differentially Affects Lipolysis but Not Gene Induction in White Adipose Tissue [PDF]
, 1999 Josep V. Planas +3 more
openalex +1 more source
Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden +15 more
wiley +1 more source