keyword
MENU ▼
Read by QxMD icon Read
search

CRISPR CAS9 human neuromuscular

keyword
https://www.readbyqxmd.com/read/27668807/genome-editing-of-monogenic-neuromuscular-diseases-a-systematic-review
#1
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...
September 26, 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
#2
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
#3
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
1
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"