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Atn1
Atrophin-1 is a protein that in humans is encoded by the ATN1 gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. The function of Atrophin-1 has not yet been determined. There is evidence provided by studies of Atrophin-1 in animals to suggest it acts as a transcriptional co-repressor. Atrophin-1 can be found in the nuclear and cytoplasmic compartments of neurons. It is expressed in nervous tissue. Function The function of Atrophin-1 has not been defined yet. It is widely hypothesized that Atrophin-1 functions as a transcriptional co-repressor. A transcriptional co-repressor is a protein that indirectly suppresses the activity of specific genes by interacting with DNA-binding proteins. Clinical significance The ATN1 gene has a segment of DNA called the CAG trinucleotide repeat. It is made up of cytosine, adenine, and guanine. The number of CAG repeats in the ATN1 gene in a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myoclonic Epilepsy
Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks are occasionally associated with abnormal brain wave activity, it can be categorized as myoclonic seizure. If the abnormal brain wave activity is persistent and results from ongoing seizures, then a diagnosis of myoclonic epilepsy may be considered. Familial adult myoclonus Epilepsy (FAME) This is a condition characterized by the repetition of non-coding sequences and has been identified using various abbreviations. Initially, it was associated with four primary gene locations: FAME1 (8q23.3–q24.1), FAME2 (2p11.1–q12.1), FAME3 (5p15.31–p15.1), and FAME4 (3q26.32–3q28). Currently, it is understood that the genetic mechanism behind FAME involves the elongation of similar non-coding sequences, specifically pentanucleotide repeats, namely TTTCA and TTTTA, within different genes. Signs and symptoms Myoclonus can be described as brief jerks of the body; it can involve any ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RERE
Arginine-glutamic acid dipeptide repeats protein is a protein that in humans is encoded by the ''RERE'' gene. Function This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Recent reports also indicate that RERE and its Drosophila homolog associate with histone methyltransferases in regulating gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. Interactions RERE has been shown to interact with ATN1 Atrophin-1 is a protein that in humans is encoded by the ATN1 gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the varia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MAGI2
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 also known as membrane-associated guanylate kinase inverted 2 (MAGI-2) and atrophin-1-interacting protein 1 (AIP-1) is an enzyme that in humans is encoded by the ''MAGI2'' gene. Function The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral-pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue ( MAGUK) family. Interactions MAGI2 has been shown to interact with ATN1 and PTEN (gene) Phosphatase and tensin homolog (PTEN) is a phosphatase in humans and is encoded by the ''PTEN'' gene. Mutations of this gene are a step in the development of many cancers, specifically glioblastoma, lung cancer, breast cancer, and prostate c .... R ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MAGI1
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 is an enzyme that in humans is encoded by the ''MAGI1'' gene. Function The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell–cell contact. The product of this gene may play a role as scaffolding protein at cell–cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. Interactions MAGI1 has been shown to interact with: * ACCN3, * ATN1, * Actinin alpha 4, * Beta-catenin, * Brain-specific angiogenesis inhibitor 1, * Calcium-activated potassium channel subunit alpha-1, * FCHSD2 FCH and double SH3 domains protein 2 is a protein that in humans is encoded by the ''FCHSD2'' gene In biology, the word gene has two meanings. The Mendelian gene is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dementia
Dementia is a syndrome associated with many neurodegenerative diseases, characterized by a general decline in cognitive abilities that affects a person's ability to perform activities of daily living, everyday activities. This typically involves problems with memory, thinking, behavior, and motor control. Aside from memory impairment and a thought disorder, disruption in thought patterns, the most common symptoms of dementia include emotional problems, difficulties with language, and decreased motivation. The symptoms may be described as occurring in a continuum (measurement), continuum over several stages. Dementia is a life-limiting condition, having a significant effect on the individual, their caregivers, and their social relationships in general. A diagnosis of dementia requires the observation of a change from a person's usual mental functioning and a greater cognitive decline than might be caused by the normal aging process. Several diseases and injuries to the brain, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Choreoathetosis
Choreoathetosis is the occurrence of involuntary movements in a combination of chorea (irregular migrating contractions) and athetosis (twisting and writhing). It is caused by many different diseases and agents. It is a symptom of several diseases, including GLUT1 deficiency syndrome, Lesch–Nyhan syndrome, phenylketonuria, and Huntington disease and can be a feature of kernicterus (rapidly increasing unconjugated bilirubin that cross the blood-brain-barrier in infants). Choreoathetosis is also a common presentation of dyskinesia as a side effect of levodopa-carbidopa in the treatment of Parkinson disease. The use of crack cocaine or amphetamines Substituted amphetamines, or simply amphetamines, are a chemical class, class of compounds based upon the amphetamine structure; it includes all derivative (chemistry), derivative compounds which are formed by replacing, or substitution reacti ... can result in conditions nicknamed ''crack dancing'', or ''tweaking'' respectively ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebellar Ataxia
Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. Lesions to the cerebellum can cause dyssynergia, dysmetria, dysdiadochokinesia, dysarthria and ataxia of stance and gait. Deficits are observed with movements on the same side of the body as the lesion (ipsilateral). Clinicians often use visual observation of people performing motor tasks in order to look for signs of ataxia. Signs and symptoms Damage to the cerebellum causes impairment in motor skills and can cause nystagmus. Almost a third of people with isolated, late onset cerebellar ataxia go on to develop multiple system atrophy. The cerebellum's role has been observed as not purely motor. It is combined with intellect, emotion and planning. Cerebellar de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurodegeneration
A neurodegenerative disease is caused by the progressive loss of neurons, in the process known as neurodegeneration. Neuronal damage may also ultimately result in their cell death, death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, Tauopathy, tauopathies, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic. Because there is no known way to reverse the progressive degeneration of neurons, these diseases are considered to be incurable; however research has shown that the two major contributing factors to neurodegeneration are oxidative stress and inflammation. Biomedical research has revealed many similarities between these diseases at the subcellular level, including atypical protein assemblies (like proteinopathy) and induced cell death. These similarities su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
