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CRISPR CAS9 human neuromuscular

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https://www.readbyqxmd.com/read/28819043/increased-acetylation-of-microtubules-rescues-human-tau-induced-microtubule-defects-and-neuromuscular-junction-abnormalities-in-drosophila
#1
Chuan-Xi Mao, Xue Wen, Shan Jin, Yong Q Zhang
Tau normally associates with and stabilizes microtubules (MTs), but is hyperphosphorylated and aggregated into neurofibrillary tangles in Alzheimer's disease and related neurodegenerative diseases, which are collectively known as tauopathies. MTs are regulated by different forms of post-translational modification including acetylation; acetylated MTs represent a more stable microtubule population. In our previous study, we show that inhibition of histone deacetylase 6 (HDAC6), which deacetylates tubulin at lysine 40, rescues defects in MTs and in neuromuscular junction growth caused by tau overexpression...
August 17, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/27936181/in-vivo-modelling-of-atp1a3-g316s-induced-ataxia-in-c-elegans-using-crispr-cas9-mediated-homologous-recombination-reveals-dominant-loss-of-function-defects
#2
Altar Sorkaç, Ivan C Alcantara, Anne C Hart
The NIH Undiagnosed Diseases Program admitted a male patient with unclassifiable late-onset ataxia-like symptoms. Exome sequencing revealed a heterozygous de novo mutation converting glycine 316 to serine in ATP1A3, which might cause disease. ATP1A3 encodes the Na+/K+ ATPase pump α3-subunit. Using CRISPR/Cas9-mediated homologous recombination for genome editing, we modelled this putative disease-causing allele in Caenorhabditis elegans, recreating the patient amino acid change in eat-6, the orthologue of ATP1A3...
2016: PloS One
https://www.readbyqxmd.com/read/27668807/genome-editing-of-monogenic-neuromuscular-diseases-a-systematic-review
#3
REVIEW
Chengzu Long, Leonela Amoasii, Rhonda Bassel-Duby, Eric N Olson
Importance: Muscle weakness, the most common symptom of neuromuscular disease, may result from muscle dysfunction or may be caused indirectly by neuronal and neuromuscular junction abnormalities. To date, more than 780 monogenic neuromuscular diseases, linked to 417 different genes, have been identified in humans. Genome-editing methods, especially the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 (CRISPR-associated protein 9) system, hold clinical potential for curing many monogenic disorders, including neuromuscular diseases such as Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, and myotonic dystrophy type 1...
November 1, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27590927/crispr-cas9-induced-mutations-along-de-novo-purine-synthesis-in-hela-cells-result-in-accumulation-of-individual-enzyme-substrates-and-affect-purinosome-formation
#4
Veronika Baresova, Matyas Krijt, Vaclava Skopova, Olga Souckova, Stanislav Kmoch, Marie Zikanova
Purines are essential molecules for nucleic acid synthesis and are the most common carriers of chemical energy in all living organisms. The cellular pool of purines is maintained by the balance between their de novo synthesis (DNPS), recycling and degradation. DNPS includes ten reactions catalysed by six enzymes. To date, two genetically determined disorders of DNPS enzymes have been described, and the existence of other defects manifested by neurological symptoms and the accumulation of DNPS intermediates in bodily fluids is highly presumable...
August 24, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/26626625/congenital-myasthenic-syndrome-type-19-is-caused-by-mutations-in-col13a1-encoding-the-atypical-non-fibrillar-collagen-type-xiii-%C3%AE-1-chain
#5
Clare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, David A Parry, Susan Maxwell, Pilar Martínez-Martínez, Joey Riepsaame, Zakia A Abdelhamed, Alice V R Lake, Maria Moran, Stephanie Robb, Gabriel Chow, Caroline Sewry, Philip M Hopkins, Eamonn Sheridan, Sandeep Jayawant, Jacqueline Palace, Colin A Johnson, David Beeson
The neuromuscular junction (NMJ) consists of a tripartite synapse with a presynaptic nerve terminal, Schwann cells that ensheathe the terminal bouton, and a highly specialized postsynaptic membrane. Synaptic structural integrity is crucial for efficient signal transmission. Congenital myasthenic syndromes (CMSs) are a heterogeneous group of inherited disorders that result from impaired neuromuscular transmission, caused by mutations in genes encoding proteins that are involved in synaptic transmission and in forming and maintaining the structural integrity of NMJs...
December 3, 2015: American Journal of Human Genetics
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