Survival of motor neuron 2 (SMN2) is a gene that encodes the SMN protein (full and truncated) in humans. The SMN2 gene is part of a 500 kb inverted duplication...
10 KB (1,354 words) - 09:13, 6 February 2024
and skeletal muscles. Another gene, SMN2, is considered a disease modifying gene, since usually the more the SMN2 copies, the milder is the disease course...
89 KB (9,953 words) - 10:33, 25 May 2024
by the SMN1 and SMN2 genes. SMA is caused by mutations in SMN1 that code for inactive forms of the protein. The activity of the SMN2 gene, which produces...
23 KB (1,781 words) - 19:37, 1 July 2024
the gene encoding the SMN protein; the centromeric copy is termed SMN2. SMN1 and SMN2 are part of a 500 kbp inverted duplication on chromosome 5q13. This...
10 KB (1,274 words) - 23:14, 6 February 2024
amounts of the SMN protein produced from the SMN2 gene. Nusinersen modulates alternative splicing of the SMN2 gene, functionally converting it into SMN1...
27 KB (2,095 words) - 07:27, 1 July 2024
investigated the function of the intronic splicing silencer N1 (ISS-N1) in the SMN2 gene, its involvement in exon 7 skipping and its therapeutic potential for...
14 KB (1,585 words) - 23:56, 21 July 2024
SMA patients must depend on Survivor of Motor Neurons 2 (SMN2), a gene that all humans have. SMN2 cannot produce sufficient full-length protein for the motor...
20 KB (2,229 words) - 18:14, 6 July 2024
muscular atrophy; it is speculated to modulate the alternative splicing of the SMN2 gene, increasing the amount of the SMN protein, the deficiency of which is...
36 KB (3,007 words) - 06:11, 14 July 2024
diagnosis of spinal muscular atrophy type 1 or have up to three copies of the SMN2 gene. Common adverse reactions may include nausea and elevated liver enzymes...
33 KB (2,443 words) - 02:11, 16 July 2024
SMN (survival motor neuron) gene, SMN1 and SMN2. The SMN1 gene produces a complete transcript, while SMN2 produces a transcript without exon 7 which results...
7 KB (858 words) - 06:25, 3 June 2024
motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes. SMN is found in the cytoplasm of all animal cells and also in the...
13 KB (1,384 words) - 23:04, 9 June 2024
diagnosis of SMA Type 1; or SMA patients with up to three copies of the SMN2 gene. Shortly after the approval, the US Food and Drug Administration accused...
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Nicole A; Smith, Thomas M; Salcius, Michael; Shi, Xiaoying (2015-06-01). "SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice". Nature...
65 KB (7,640 words) - 14:15, 22 July 2024
the amount of functional survival of motor neuron protein produced by the SMN2 gene through modifying its splicing pattern. It was studied since 2014 in...
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Epigenetics of neurodegenerative diseases (section Epigenetic treatment through SMN2 gene activation)
5 and also contains SMN2 in a centromeric region. SMN1 and SMN2 are nearly identical except for a single nucleotide change in SMN2 resulting in an alternative...
113 KB (13,392 words) - 02:52, 24 May 2024
C10 C11 C13 C14 C19 Hsp70 1A 1B 1L 2 4 4L 5 6 7 8 9 12A 14 Hsp90 α1 α2 β ER TRAP1 Other Alpha crystallin Clusterin Survival of motor neuron SMN1 SMN2...
15 KB (1,741 words) - 18:05, 31 December 2023
C10 C11 C13 C14 C19 Hsp70 1A 1B 1L 2 4 4L 5 6 7 8 9 12A 14 Hsp90 α1 α2 β ER TRAP1 Other Alpha crystallin Clusterin Survival of motor neuron SMN1 SMN2...
29 KB (3,499 words) - 07:16, 20 February 2024
C10 C11 C13 C14 C19 Hsp70 1A 1B 1L 2 4 4L 5 6 7 8 9 12A 14 Hsp90 α1 α2 β ER TRAP1 Other Alpha crystallin Clusterin Survival of motor neuron SMN1 SMN2...
98 KB (11,068 words) - 18:25, 16 July 2024
C10 C11 C13 C14 C19 Hsp70 1A 1B 1L 2 4 4L 5 6 7 8 9 12A 14 Hsp90 α1 α2 β ER TRAP1 Other Alpha crystallin Clusterin Survival of motor neuron SMN1 SMN2...
49 KB (5,533 words) - 10:41, 19 July 2024
the deletion of the homozygous SMN1, while the severity is based on the SMN2 gene. Medical screenings, such as scans, should only be used for patients...
24 KB (3,065 words) - 23:23, 1 July 2024
C10 C11 C13 C14 C19 Hsp70 1A 1B 1L 2 4 4L 5 6 7 8 9 12A 14 Hsp90 α1 α2 β ER TRAP1 Other Alpha crystallin Clusterin Survival of motor neuron SMN1 SMN2...
50 KB (5,687 words) - 16:06, 10 July 2024
C10 C11 C13 C14 C19 Hsp70 1A 1B 1L 2 4 4L 5 6 7 8 9 12A 14 Hsp90 α1 α2 β ER TRAP1 Other Alpha crystallin Clusterin Survival of motor neuron SMN1 SMN2...
24 KB (2,754 words) - 03:25, 27 May 2024
1960s; their goal was to understand transcription (going from DNA to RNA). SMN2 is a gene that when mutated can cause spinal muscular atrophy (SMA). Although...
13 KB (1,464 words) - 02:25, 19 June 2024
C10 C11 C13 C14 C19 Hsp70 1A 1B 1L 2 4 4L 5 6 7 8 9 12A 14 Hsp90 α1 α2 β ER TRAP1 Other Alpha crystallin Clusterin Survival of motor neuron SMN1 SMN2...
52 KB (6,394 words) - 03:48, 19 March 2024
stabilizes the transient double-stranded RNA (dsRNA) structure formed between the SMN2 pre-mRNA and U1 snRNP complex, a key component of the splicesome. Further...
37 KB (4,390 words) - 14:49, 19 July 2024
PMID 26191773. Cho, Sungchan; Dreyfuss, Gideon (2010-03-01). "A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity"...
14 KB (1,520 words) - 22:11, 8 July 2024
clinical symptoms of SMA type 1 or who have no more than three copies of the SMN2 gene, irrespective of body weight or age. In August, Audentes Therapeutics...
173 KB (17,860 words) - 13:30, 20 July 2024
C10 C11 C13 C14 C19 Hsp70 1A 1B 1L 2 4 4L 5 6 7 8 9 12A 14 Hsp90 α1 α2 β ER TRAP1 Other Alpha crystallin Clusterin Survival of motor neuron SMN1 SMN2...
31 KB (3,521 words) - 04:06, 19 March 2024
C10 C11 C13 C14 C19 Hsp70 1A 1B 1L 2 4 4L 5 6 7 8 9 12A 14 Hsp90 α1 α2 β ER TRAP1 Other Alpha crystallin Clusterin Survival of motor neuron SMN1 SMN2...
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C10 C11 C13 C14 C19 Hsp70 1A 1B 1L 2 4 4L 5 6 7 8 9 12A 14 Hsp90 α1 α2 β ER TRAP1 Other Alpha crystallin Clusterin Survival of motor neuron SMN1 SMN2...
42 KB (5,440 words) - 05:47, 10 June 2024