Not exact matches
In humans, Huntington's is an inherited disease caused
by a gene encoding a toxic
protein, called mutant
huntingtin, which causes brain cells to die.
Huntington's disease is caused
by a gene encoding a toxic
protein (mutant
huntingtin) that causes brain cells to die.
It is caused
by a single gene abnormality which leads to the production of a mutant form of a
protein called
huntingtin (mHtt).
«The damage caused
by the mutant
huntingtin protein radiates out through the cell, like a pebble dropped in a pond.
Huntington's disease is an inherited genetic disorder caused
by mutations in the gene that encodes
huntingtin protein.
Qi and colleagues discovered that VCP is recruited to nerve cell mitochondria
by mutant
huntingtin protein.
Hughes said Mooney employed sophisticated computational methods which allowed researchers to comprehensively analyze the functions or so - called «jobs» of the
proteins and networks and how they might be impacted
by the
huntingtin mutation.
HD is caused
by a mutation in the human HTT gene that results in an abnormal expansion and misfolding of the corresponding
huntingtin protein.
Huntington's disease is caused
by an expansion of glutamine residues in the
huntingtin protein, altering its function and ultimately resulting in toxic aggregation of
huntingtin fragments in neurons.
Not long after the HD gene was isolated, studies led
by MacDonald, also a co-author of the current investigation, found that a variation in the number of CAG trinucleotide repeats within the HD gene, which codes for a
protein called
huntingtin, is the primary determinant of the age at which HD symptoms appear, with a greater number of CAG repeats associated with an earlier symptom onset.
The zinc finger
protein works
by targeting the mutant copies of the
Huntingtin gene, repressing its ability to express and create harmful
proteins.
Huntington's disease is caused
by a gene encoding a toxic
protein (mutant
huntingtin or mHTT).
The Max Planck scientists could also show that a toxic
protein related to the abnormal, aggregate - forming
protein «
huntingtin» of patients with the neurodegenerative Huntington's disease is efficiently destroyed
by the newly identified pathway.
Inhibition of mitochondrial
protein import
by mutant
huntingtin.
Huntington's is an inherited disease caused
by a gene encoding a toxic
protein (mutant
huntingtin) that causes brain cells to die.
Huntington's disease is caused
by a gene encoding a toxic
protein (mutant
huntingtin or mHTT) that causes brain cells to die.
The appearance of blobs of mutant
huntingtin protein was reduced
by about 40 %, too.
By placing aSyn and the
huntingtin protein into the library separately and then monitoring each cell's reaction, they were able to deduce which genes are important for the cells to survive the toxic insult from aSyn, and which ones are needed to help the cells survive the
huntingtin protein.
Caused
by a mutation in the gene for a
protein called
huntingtin, the disease damages brain cells so that people with Huntington's progressively lose their ability to walk, talk, think and reason.
«Huntington's — an inherited and fatal disorder that leads to problems with muscle coordination, cognition and personality — is characterized
by the toxic buildup of a mutant form of the
huntingtin protein in the brain,» explained Dr. Finkbeiner, who directs the Taube - Koret Center for Neurodegenerative Disease Research at Gladstone.
Plus, there are other drugs being developed and tested that aim to slow or prevent HD in other ways,
by helping restore normal functioning of the brain in the presence of the mutant
huntingtin protein.
Huntington's disease (HD) is a progressive neurodegenerative disorder caused
by a CAG: CTG repeat expansion in exon 1 of the gene that encodes the polyglutamine - containing
protein Huntingtin.
With these details of translation in mind, a team of Huntington's disease researchers, led
by Susann Schweiger of The Max Planck Institute for Molecular Genetics in Berlin, decided to study how
huntingtin proteins are made from genes of different lengths.
We've known for a little while that drugs that interfere with mTOR decrease levels of mutant
huntingtin protein by helping cells destroy it after it's made.
Current
huntingtin - lowering drugs, called ASOs, are also given as individual doses separated
by several weeks, with normal
protein production expected to bounce back somewhat in between.
Here, we examine wild - type
huntingtin's localization in cultured cells
by expressing the full - length human
protein tagged with enhanced green fluorescent
protein (EGFP) within its unspliced genomic context.
Huntington's disease is caused
by a mutation in the gene that's a recipe for a
protein called
huntingtin.
Researchers will have to bear in mind that some of the detrimental
huntingtin protein may come from a shorter RNA message, which may be missed
by some gene - silencing drugs.
The progressive neurodegenerative disorder Huntington's disease (HD), which is caused
by a polyglutamine repeat expansion within the
huntingtin protein, is characterized
by movement disorders, cognitive impairment and psychiatric symptoms.
HD is caused
by an unstable expansion of CAG repeats in the gene encoding
huntingtin protein.
One possible implication of this work is for so - called «gene - silencing» therapies for Huntington's disease, which aim to reduce production of the
huntingtin protein,
by sticking to its RNA message molecules and telling cells to get rid of them.
The Steffan laboratory is being funded
by the Hereditary Disease Foundation to investigate how the
Huntingtin protein interacts with the ubiquitin - tagged trash in order to scaffold it to the lysosome for degradation, and to figure out what kinds of trash may be cleaned up
by Huntingtin.