Sökning: "SMN1"

Hittade 4 avhandlingar innehållade ordet SMN1.

  1. 1. On the aetiology of ALS : a comprehensive genetic study

    Författare :Caroline Ingre; Peter M Andersen; Rayomand Press; Siddharthan Chandran; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; risk factor; VAPB; SOD1; amyotrophic lateral sclerosis; ATXN2; SMN1; SMN2; PFN1; 50 bp deletion in SOD1 promotor; population-specific genetic variations; Neurology; neurologi;

    Sammanfattning : Introduction: Amyotrophic lateral sclerosis (ALS) is a deadly, progressive neuromuscular disease that affects individuals all over the world. About 10% of the patients have a familial predisposition (FALS) while the remainder of cases are isolated or sporadic (SALS) and of unknown cause. LÄS MER

  3. 2. New modifiers of insulin signalling identified by interaction screens with ASNA-1 in C. elegans

    Författare :Balasubramanian Natarajan; Peter Naredi; Richard Padgett; Umeå universitet; []
    Nyckelord :Insulin; C. elegans; ASNA1; Cisplatin; GRP94; unfolded protein response; SMN1; Developmental Biology; miljömedicinsk utvecklingsbiologi;

    Sammanfattning : Background: Insulin is a hormone released by the pancreatic beta cells in response to elevated levels of nutrients in the blood. Insulin triggers the uptake of glucose, fatty acids and amino acids into the liver, adipose tissue and muscles. LÄS MER

  4. 3. Identification of pathways of degeneration and protection in motor neuron diseases

    Författare :Susanne Nichterwitz; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Motor neuron diseases preferentially affect specific neuronal populations with distinct clinical features even if disease-causing genes are expressed in many cell types. In spinal muscular atrophy (SMA), somatic motor neurons are selectively vulnerable to a deficiency in the broadly expressed survival of motor neuron 1 (SMN1) gene. LÄS MER

  5. 4. Regulation of the vertebrate transcriptome in development and disease

    Författare :Helena Storvall; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : In the last decade we have seen a tremendous development in the omics area (genomics, transcriptomics, proteomics etc.), making high throughput methods increasingly costeffective and available. LÄS MER