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• W2153719074 endingPage "50" @default.
• W2153719074 startingPage "40" @default.
• W2153719074 abstract "Spinal muscular atrophy (SMA) is a neuromuscular disease caused by abnormally low cellular levels of the ubiquitous protein SMN. Traditionally, reduced levels of SMN were thought to cause the selective death of lower motor neurons, leading to denervation and atrophy of skeletal muscles. However, numerous recent studies challenge the notion that SMA is solely a disease of lower motor neurons, indicating that SMA may actually be a multi-system disorder. There are several promising therapies for SMA, but effectively targeting treatment to all affected cells and tissues remains a major issue. Identifying and characterizing pathological changes that occur across all cell types and tissues affected by SMA is crucial for successfully developing new SMA therapeutics, and in this review we summarize recent developments in understanding the function of SMN in cells above and beyond motor neurons. Spinal muscular atrophy (SMA) is a neuromuscular disease caused by abnormally low cellular levels of the ubiquitous protein SMN. Traditionally, reduced levels of SMN were thought to cause the selective death of lower motor neurons, leading to denervation and atrophy of skeletal muscles. However, numerous recent studies challenge the notion that SMA is solely a disease of lower motor neurons, indicating that SMA may actually be a multi-system disorder. There are several promising therapies for SMA, but effectively targeting treatment to all affected cells and tissues remains a major issue. Identifying and characterizing pathological changes that occur across all cell types and tissues affected by SMA is crucial for successfully developing new SMA therapeutics, and in this review we summarize recent developments in understanding the function of SMN in cells above and beyond motor neurons. a specialized cell that transmits electrical nerve impulses from receptors to the central nervous system (CNS). wasting away or degeneration of a body part. a selectively permeable barrier between the circulating blood and brain. The BBB is an important consideration when determining a delivery method for therapeutics to the CNS because many compounds, including some small molecules, cannot efficiently move between the blood and the CNS. a slow heart rate. In SMA mouse models the heart rate slows by at least 20% compared to normal in the first few days of birth and slows further as the disease progresses. a measurable deterioration of the heart muscle. It can be detected by histological staining of the heart. loss of nerve supply to a tissue in the body. a dynamic extension of a developing axon. The dynamic nature of growth cones allows them to respond rapidly to environmental changes that require processing of sensory input, or repositioning or extension of axons. Reduced growth cone size limits the ability of the growth cone to respond to stimuli. a state of excess glucagon secretion. In general, this is caused by an absence or decrease in the inhibitory effects of insulin on glucagon production, and indicates dysfunction in regulating the production, secretion, or recognition of insulin. a condition in which there is an excessive amount of glucose in the blood plasma. the formation of muscle tissue. the death of living cells or tissues. In contrast to apoptosis, necrosis is not well regulated, is often caused by potent external factors such as infection or trauma, and the detritus of cell death is not cleared as efficiently by the immune system, increasing the negative effects on neighboring cells and tissues. a specialized synapse between a motor neuron and a skeletal muscle fiber. a description of bone that has become increasingly porous, brittle, and subject to fracture. the removal of noncoding sequence (introns) from pre-mRNA. Splicing is a complex process." @default.
• W2153719074 created "2016-06-24" @default.
• W2153719074 creator A5021970950 @default.
• W2153719074 creator A5042253588 @default.
• W2153719074 date "2013-01-01" @default.
• W2153719074 modified "2023-10-11" @default.
• W2153719074 title "Spinal muscular atrophy: going beyond the motor neuron" @default.
• W2153719074 cites W1554872850 @default.
• W2153719074 cites W1965284203 @default.
• W2153719074 cites W1967242914 @default.
• W2153719074 cites W1971203455 @default.
• W2153719074 cites W1979437987 @default.
• W2153719074 cites W1980477780 @default.
• W2153719074 cites W1980905234 @default.
• W2153719074 cites W1986739119 @default.
• W2153719074 cites W1988447677 @default.
• W2153719074 cites W1988630343 @default.
• W2153719074 cites W1992439336 @default.
• W2153719074 cites W1996417439 @default.
• W2153719074 cites W1996670527 @default.
• W2153719074 cites W2000725203 @default.
• W2153719074 cites W2000965070 @default.
• W2153719074 cites W2002112358 @default.
• W2153719074 cites W2002912370 @default.
• W2153719074 cites W2012412344 @default.
• W2153719074 cites W2013142508 @default.
• W2153719074 cites W2013266164 @default.
• W2153719074 cites W2015026135 @default.
• W2153719074 cites W2016773172 @default.
• W2153719074 cites W2016855436 @default.
• W2153719074 cites W2020999287 @default.
• W2153719074 cites W2021314069 @default.
• W2153719074 cites W2021723263 @default.
• W2153719074 cites W2033608839 @default.
• W2153719074 cites W2034784666 @default.
• W2153719074 cites W2036089303 @default.
• W2153719074 cites W2037012336 @default.
• W2153719074 cites W2038786440 @default.
• W2153719074 cites W2045117117 @default.
• W2153719074 cites W2046790812 @default.
• W2153719074 cites W2047268435 @default.
• W2153719074 cites W2047345323 @default.
• W2153719074 cites W2054380003 @default.
• W2153719074 cites W2059826148 @default.
• W2153719074 cites W2068076855 @default.
• W2153719074 cites W2070169320 @default.
• W2153719074 cites W2071086380 @default.
• W2153719074 cites W2071655559 @default.
• W2153719074 cites W2074697255 @default.
• W2153719074 cites W2076163943 @default.
• W2153719074 cites W2077681525 @default.
• W2153719074 cites W2082236797 @default.
• W2153719074 cites W2085465310 @default.
• W2153719074 cites W2088820444 @default.
• W2153719074 cites W2089664500 @default.
• W2153719074 cites W2094108169 @default.
• W2153719074 cites W2096650232 @default.
• W2153719074 cites W2098498148 @default.
• W2153719074 cites W2101970831 @default.
• W2153719074 cites W2104483488 @default.
• W2153719074 cites W2104506892 @default.
• W2153719074 cites W2107128774 @default.
• W2153719074 cites W2107257806 @default.
• W2153719074 cites W2108075874 @default.
• W2153719074 cites W2109273258 @default.
• W2153719074 cites W2112430789 @default.
• W2153719074 cites W2113692867 @default.
• W2153719074 cites W2114476407 @default.
• W2153719074 cites W2115034448 @default.
• W2153719074 cites W2115222513 @default.
• W2153719074 cites W2115482466 @default.
• W2153719074 cites W2116175665 @default.
• W2153719074 cites W2117278447 @default.
• W2153719074 cites W2119330162 @default.
• W2153719074 cites W2119435334 @default.
• W2153719074 cites W2119878613 @default.
• W2153719074 cites W2120949999 @default.
• W2153719074 cites W2122329067 @default.
• W2153719074 cites W2124852855 @default.
• W2153719074 cites W2125953041 @default.
• W2153719074 cites W2129294012 @default.
• W2153719074 cites W2129447667 @default.
• W2153719074 cites W2131951074 @default.
• W2153719074 cites W2132519155 @default.
• W2153719074 cites W2134360710 @default.
• W2153719074 cites W2136868631 @default.
• W2153719074 cites W2136930242 @default.
• W2153719074 cites W2138448105 @default.
• W2153719074 cites W2139818029 @default.
• W2153719074 cites W2140853061 @default.
• W2153719074 cites W2142120640 @default.
• W2153719074 cites W2147552101 @default.
• W2153719074 cites W2147713965 @default.
• W2153719074 cites W2148071380 @default.
• W2153719074 cites W2153279059 @default.
• W2153719074 cites W2153484644 @default.
• W2153719074 cites W2156926812 @default.
• W2153719074 cites W2157672028 @default.

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