The P56S mutation in the VAPB gene is not due to a single founder

Funke, A.

doi:10.1055/s-2008-1072959

Cited by 3 publications

(5 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…ALS is a degenerative disease specifically affecting motor neurons leading to a progressive and fatal paralysis of striated muscles 7 . Missense mutations in the human VAMP-Associated Protein B (hVAPB) cause a range of motor neuron diseases including ALS type 8 [8][9][10][11][12] . A missense mutation (V234I) in the hVAPB gene has been recently identified in one case of typical ALS in humans 13 .…”

Section: Representative Resultsmentioning

confidence: 99%

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction

Sanhueza

Kubasik-Thayil

Pennetta

2016

JoVE

View full text Add to dashboard Cite

Section: Representative Resultsmentioning

confidence: 99%

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction

Sanhueza

Kubasik-Thayil

Pennetta

2016

JoVE

View full text Add to dashboard Cite

“…The patient described here had features of both upper and lower motor neuron disease in a pattern consistent with previous reported findings. [3][4][5] VAPB is known to be localized to the ER, and the P56S mutant protein aggregates into inclusions resulting in altered ER structure. 6,15,16 We did not detect any difference in the localization or amount of mutant VAPB compared to control, consistent with previous observations in patient cells.…”

Section: Discussionmentioning

confidence: 99%

“…2 Analysis of a nearby TUBB1 3 0 UTR polymorphism (rs10485828) indicated that the patient did not carry the C allele segregating with the mutation in the Brazilian families. 2,4…”

Section: Clinical Evaluationmentioning

confidence: 99%

See 1 more Smart Citation

Nucleocytoplasmic transport defect in a North American patient with ALS8

Guber

Schindler

Budron

et al. 2018

Ann Clin Transl Neurol

View full text Add to dashboard Cite

Amyotrophic lateral sclerosis 8 (ALS8) is a rare progressive neurodegenerative disease resulting from mutation in the gene for vesicle‐associated membrane protein‐associated protein B. We evaluated a North American patient using exome sequencing, and identified a P56S mutation. The disease protein had similar subcellular localization and expression levels in the patient and control fibroblasts. Patient fibroblasts showed increased basal endoplasmic reticulum stress and dysfunction of nucleocytoplasmic transport as evidenced by impaired Ran trafficking. This finding extends the identification of ALS8 into North America, and indicates a cellular defect similar to other forms of hereditary motor neuron disease.

show abstract

“…Missense mutations in the human VAMP-Associated Protein B (hVAPB) cause a range of motor neuron diseases including ALS type 8 [8][9][10][11][12] . A missense mutation (V234I) in the hVAPB gene has been recently identified in one case of typical ALS in humans 13 .…”

Section: D Volume Renderings Of Selected Nuclei Within the Drosophilmentioning

confidence: 99%

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction

Sanhueza

Kubasik-Thayil

Pennetta

2016

JoVE

View full text Add to dashboard Cite

Most studies on morphogenesis rely on qualitative descriptions of how anatomical traits are affected by the disruption of specific genes and genetic pathways. Quantitative descriptions are rarely performed, although genetic manipulations produce a range of phenotypic effects and variations are observed even among individuals within control groups. Emerging evidence shows that morphology, size and location of organelles play a previously underappreciated, yet fundamental role in cell function and survival. Here we provide step-by-step instructions for performing quantitative analyses of phenotypes at the Drosophila larval neuromuscular junction (NMJ). We use several reliable immunohistochemical markers combined with bio-imaging techniques and morphometric analyses to examine the effects of genetic mutations on specific cellular processes. In particular, we focus on the quantitative analysis of phenotypes affecting morphology, size and position of nuclei within the striated muscles of Drosophila larvae. The Drosophila larval NMJ is a valuable experimental model to investigate the molecular mechanisms underlying the structure and the function of the neuromuscular system, both in health and disease. However, the methodologies we describe here can be extended to other systems as well.

show abstract

The P56S mutation in the VAPB gene is not due to a single founder

Cited by 3 publications

References 0 publications

Why Quantification Matters: Characterization of Phenotypes at the <em>Drosophila</em> Larval Neuromuscular Junction

Why Quantification Matters: Characterization of Phenotypes at the <em>Drosophila</em> Larval Neuromuscular Junction

Nucleocytoplasmic transport defect in a North American patient with ALS8

Why Quantification Matters: Characterization of Phenotypes at the <em>Drosophila</em> Larval Neuromuscular Junction

Contact Info

Product

Resources

About