Childhood-onset proximal spinal muscular atrophies (SMAs) are an autosomal recessive, clinically heterogeneous group of neuronopathies characterized by selective degeneration of anterior horn cells. The causative genes to be reported are survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes. The deletion of telomeric copy of SMN (SMN(T)) gene was observed in over 95...

Biochemical studies suggest that the NAIP family of NLR proteins are cytosolic innate receptors that directly recognize bacterial ligands and trigger NLRC4 inflammasome activation. In this study, we generated Naip5(-/-), Naip1(-/-), and Naip2(-/-) mice and showed that bone marrow macrophages derived from these knockout mice are specifically deficient in detecting bacterial flagellin, the type I...

BACKGROUND Proximal spinal muscular atrophy (SMA) is a genetically heterogeneous disease with paresis and muscle atrophy due to loss of anterior horn cell function. The survival of motor neuron gene (SMN) and neuronal apoptosis inhibitory protein (NAIP) play a primary role. Both the gene homologues exist as inverted duplications on Chromosome 5q. The telomeric/functional (SMN1) and the centrome...

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene. It is characterized by significant phenotype variability. In this study, we analyzed possible phenotype modifiers of the disease - the size of the deletion in the SMA region, the number of SMN2 gene copies, as well as the effect of gender. Among the factors analyzed, two seem to ...

The general objective of the study was to investigate effect agriculture insurance on farmers’ performance in Rwanda, a case National Agriculture Insurance Project (NAIP). Specifically, examined farm production insured famers before and after joining NAIP, assess income NAIP evaluate savings level NAIP. researcher conducted both descriptive correlational studies. population 241 farmers as coope...

This study investigated migration and transformation mechanism of P in waste activated sludge (WAS) during anaerobic fermentation (AF) process the subsequent hydrothermal conversion (HTC) process. Control pH AF processes was found to be significant, whereby use acidic (pH = 5.5) or alkaline conditions 9.5) facilitated release either apatite phosphorus (AP) non-apatite inorganic (NAIP) organic p...

defects in genes for survival motor neuron (smn) and neural apoptosis inhibitory proteins (naip) have been reported associated with spinal muscular atrophy (sma). among the genetic defects, deletions in exons 7 and 8 of smn and exons 4 and 5 of naip were found to be most significant. in the current study, 35 unrelated sma patients including 9 patients with type i, 6 with type ii, 20 with type i...

background: spinal muscular atrophy (sma) is the second most common lethal autosomal recessive disease. it is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. the smn1 gene is recognized as a sma causing gene while naip has been characterized as a modifying factor for the clinical s...

Spinal muscular atrophy (SMA) is a relatively common, autosomal recessively inherited neurodegenerative disorder that maps to human chromosome 5q13. This region of the human genome has an intricate genomic structure that has complicated the evaluation of SMA candidate genes. We have chosen to study the mouse region syntenic for human SMA in the hope that the homologous mouse interval would cont...