publication . Doctoral thesis . 2011

Analysis of the modifying influence of Plastin 3 (PLS3) on Spinal Muscular Atrophy (SMA) by generation of transgenic mouse models

Ackermann, Bastian;
Open Access German
  • Published: 21 Nov 2011
  • Country: Germany
Abstract
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by the loss of α-motor neurons in the ventral horn of the spinal cord. Depending on the severity, the clinical spectrum of SMA ranges from early infant death to normal adult life with only mild muscle weakness. To date, no cure is available. SMA is caused by the homozygous loss of the survival motor neuron gene 1 (SMN1). Besides SMN1, another nearly identical copy of the gene is present in the human genome, thus called SMN2. In the SMN2 gene, a C to T transition in exon 7 leads to the disruption of an exonic splicing enhancer, resulting in alternative splicing of SMN2 pre-mRNA and skippin...
Subjects
free text keywords: ddc:570, ddc:610
Related Organizations
186 references, page 1 of 13

Generation of the Rosa26 targeting construct............................................... 84

5.1.1 Rosa26 targeting and structure of the targeting construct.................................... 84

Nomenclature of the PLS3V5 transgenic mouse lines generated in this thesis

- Overview ............................................................................................................. 94

Generation of chimeras and identification of transgenic PLS3-floxed mice......... 95

Generation of the PLS3V5-ubi line by permanent deletion of the stop

cassette in PLS3V5-floxed mice ........................................................................... 97

Lowery LA, Van Vactor D (The trip of the tip: understanding the growth cone machinery. Nat Rev Mol Cell Biol 10:332-343.2009).

Lundquist EA, Herman RK, Shaw JE, Bargmann CI (UNC-115, a conserved protein with predicted LIM and actin-binding domains, mediates axon guidance in C. elegans. Neuron 21:385-392.1998). [OpenAIRE]

Luo L (Actin cytoskeleton regulation in neuronal morphogenesis and structural plasticity. Annu Rev Cell Dev Biol 18:601-635.2002).

Luo L, O'Leary DD (Axon retraction and degeneration in development and disease. Annu Rev Neurosci 28:127-156.2005).

Luo ZG, Je HS, Wang Q, Yang F, Dobbins GC, Yang ZH, Xiong WC, Lu B, Mei L (Implication of geranylgeranyltransferase I in synapse formation. Neuron 40:703-717.2003).

Luo ZG, Wang Q, Zhou JZ, Wang J, Luo Z, Liu M, He X, Wynshaw-Boris A, Xiong WC, Lu B, Mei L (Regulation of AChR clustering by Dishevelled interacting with MuSK and PAK1. Neuron 35:489-505.2002).

MacLeod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA (Prenatal onset spinal muscular atrophy. Eur J Paediatr Neurol 3:65-72.1999). [OpenAIRE]

Madhavan R, Gong ZL, Ma JJ, Chan AW, Peng HB (The function of cortactin in the clustering of acetylcholine receptors at the vertebrate neuromuscular junction. PLoS One 4:e8478.2009).

186 references, page 1 of 13
Abstract
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by the loss of α-motor neurons in the ventral horn of the spinal cord. Depending on the severity, the clinical spectrum of SMA ranges from early infant death to normal adult life with only mild muscle weakness. To date, no cure is available. SMA is caused by the homozygous loss of the survival motor neuron gene 1 (SMN1). Besides SMN1, another nearly identical copy of the gene is present in the human genome, thus called SMN2. In the SMN2 gene, a C to T transition in exon 7 leads to the disruption of an exonic splicing enhancer, resulting in alternative splicing of SMN2 pre-mRNA and skippin...
Subjects
free text keywords: ddc:570, ddc:610
Related Organizations
186 references, page 1 of 13

Generation of the Rosa26 targeting construct............................................... 84

5.1.1 Rosa26 targeting and structure of the targeting construct.................................... 84

Nomenclature of the PLS3V5 transgenic mouse lines generated in this thesis

- Overview ............................................................................................................. 94

Generation of chimeras and identification of transgenic PLS3-floxed mice......... 95

Generation of the PLS3V5-ubi line by permanent deletion of the stop

cassette in PLS3V5-floxed mice ........................................................................... 97

Lowery LA, Van Vactor D (The trip of the tip: understanding the growth cone machinery. Nat Rev Mol Cell Biol 10:332-343.2009).

Lundquist EA, Herman RK, Shaw JE, Bargmann CI (UNC-115, a conserved protein with predicted LIM and actin-binding domains, mediates axon guidance in C. elegans. Neuron 21:385-392.1998). [OpenAIRE]

Luo L (Actin cytoskeleton regulation in neuronal morphogenesis and structural plasticity. Annu Rev Cell Dev Biol 18:601-635.2002).

Luo L, O'Leary DD (Axon retraction and degeneration in development and disease. Annu Rev Neurosci 28:127-156.2005).

Luo ZG, Je HS, Wang Q, Yang F, Dobbins GC, Yang ZH, Xiong WC, Lu B, Mei L (Implication of geranylgeranyltransferase I in synapse formation. Neuron 40:703-717.2003).

Luo ZG, Wang Q, Zhou JZ, Wang J, Luo Z, Liu M, He X, Wynshaw-Boris A, Xiong WC, Lu B, Mei L (Regulation of AChR clustering by Dishevelled interacting with MuSK and PAK1. Neuron 35:489-505.2002).

MacLeod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA (Prenatal onset spinal muscular atrophy. Eur J Paediatr Neurol 3:65-72.1999). [OpenAIRE]

Madhavan R, Gong ZL, Ma JJ, Chan AW, Peng HB (The function of cortactin in the clustering of acetylcholine receptors at the vertebrate neuromuscular junction. PLoS One 4:e8478.2009).

186 references, page 1 of 13
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