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39 relations: ADARB2, Amyotrophic lateral sclerosis, Anticipation (genetics), Apoptosis, Base pair, Chemical synapse, Chromosome 9, Cytoplasm, DNA damage (naturally occurring), Downregulation and upregulation, ELAV-like protein 1, Endocytosis, Entamoeba, Exocytosis, Founder effect, Frontotemporal dementia, Gene, Guanine nucleotide exchange factor, Haploinsufficiency, Locus (genetics), Mayo Clinic, Motor neuron, Motor neuron disease, Mutation, National Institutes of Health, Neurodegeneration, Neuron, Nucleolus, Open reading frame, Protein, R-loop, Rab (G-protein), Secretion, Sequestosome 1, Small GTPase, SOD1, TARDBP, Trichomonas vaginalis, Ubiquitin C.
ADARB2
Double-stranded RNA-specific editase B2 is an enzyme that in humans is encoded by the ADARB2 gene.
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Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND), and Lou Gehrig's disease, is a specific disease which causes the death of neurons controlling voluntary muscles.
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Anticipation (genetics)
In genetics, anticipation is a phenomenon whereby as a genetic disorder is passed on to the next generation, the symptoms of the genetic disorder become apparent at an earlier age with each generation.
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Apoptosis
Apoptosis (from Ancient Greek ἀπόπτωσις "falling off") is a process of programmed cell death that occurs in multicellular organisms.
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Base pair
A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.
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Chemical synapse
Chemical synapses are biological junctions through which neurons' signals can be exchanged to each other and to non-neuronal cells such as those in muscles or glands.
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Chromosome 9
Chromosome 9 is one of the 23 pairs of chromosomes in humans.
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Cytoplasm
In cell biology, the cytoplasm is the material within a living cell, excluding the cell nucleus.
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DNA damage (naturally occurring)
DNA damage is distinctly different from mutation, although both are types of error in DNA.
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Downregulation and upregulation
In the biological context of organisms' production of gene products, downregulation is the process by which a cell decreases the quantity of a cellular component, such as RNA or protein, in response to an external stimulus.
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ELAV-like protein 1
ELAV-like protein 1 or HuR (human antigen R) is a protein that in humans is encoded by the ELAVL1 gene.
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Endocytosis
Endocytosis is a form of bulk transport in which a cell transports molecules (such as proteins) into the cell (endo- + cytosis) by engulfing them in an energy-using process.
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Entamoeba
Entamoeba is a genus of Amoebozoa found as internal parasites or commensals of animals.
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Exocytosis
Exocytosis is a form of active transport in which a cell transports molecules (e.g., neurotransmitters and proteins) out of the cell (exo- + cytosis) by expelling them through an energy-dependent process.
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Founder effect
In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population.
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Frontotemporal dementia
The frontotemporal dementias (FTD) encompass six types of dementia involving the frontal or temporal lobes.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Guanine nucleotide exchange factor
Guanine nucleotide exchange factors (GEFs) are proteins or protein domains that activate monomeric GTPases by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP).
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Haploinsufficiency
Haploinsufficiency is a mechanism of action to explain a phenotype when a diploid organism has lost one copy of a gene and is left with a single functional copy of that gene.
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Locus (genetics)
A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).
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Mayo Clinic
The Mayo Clinic is a nonprofit academic medical center based in Rochester, Minnesota focused on integrated clinical practice, education, and research.
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Motor neuron
A motor neuron (or motoneuron) is a neuron whose cell body is located in the motor cortex, brainstem or the spinal cord, and whose axon (fiber) projects to the spinal cord or outside of the spinal cord to directly or indirectly control effector organs, mainly muscles and glands.
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Motor neuron disease
A motor neuron disease (MND) is any of several neurodegenerative disorders that selectively affect motor neurons, the cells that control voluntary muscles of the body.
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Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
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National Institutes of Health
The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research, founded in the late 1870s.
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Neurodegeneration
Neurodegeneration is the progressive loss of structure or function of neurons, including death of neurons.
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Neuron
A neuron, also known as a neurone (British spelling) and nerve cell, is an electrically excitable cell that receives, processes, and transmits information through electrical and chemical signals.
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Nucleolus
The nucleolus (plural nucleoli) is the largest structure in the nucleus of eukaryotic cells.
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Open reading frame
In molecular genetics, an open reading frame (ORF) is the part of a reading frame that has the ability to be translated.
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Protein
Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.
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R-loop
An R-loop is a three-stranded nucleic acid structure, composed of a DNA:RNA hybrid and the associated non-template single-stranded DNA.
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Rab (G-protein)
The Rab family of proteins is a member of the Ras superfamily of monomeric G proteins.
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Secretion
Secretion is the movement of material from one point to another, e.g. secreted chemical substance from a cell or gland.
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Sequestosome 1
Sequestosome-1 is a protein that in humans is encoded by the SQSTM1 gene.
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Small GTPase
Small GTPases, also known as small G-proteins, are a family of hydrolase enzymes that can bind and hydrolyze guanosine triphosphate (GTP).
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SOD1
Superoxide dismutase also known as superoxide dismutase 1 or SOD1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21.
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TARDBP
TAR DNA-binding protein 43 (TDP-43, transactive response DNA binding protein 43 kDa), is a protein that in humans is encoded by the TARDBP gene.
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Trichomonas vaginalis
Trichomonas vaginalis is an anaerobic, flagellated protozoan parasite and the causative agent of trichomoniasis.
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Ubiquitin C
Polyubiquitin-C is a protein encoded by the UBC gene in humans.
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References
[1] https://en.wikipedia.org/wiki/C9orf72
