Pamela Desaro
A5025113069- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Alzheimer's disease research and treatments
- Genetic Neurodegenerative Diseases
- Traumatic Brain Injury and Neurovascular Disturbances
- Biochemical Acid Research Studies
- Cancer-related gene regulation
- Prion Diseases and Protein Misfolding
- Neuroinflammation and Neurodegeneration Mechanisms
- Mitochondrial Function and Pathology
- RNA Research and Splicing
- Traumatic Brain Injury Research
- Neurological diseases and metabolism
- RNA regulation and disease
- Spinal Cord Injury Research
Mayo Clinic in Florida
2010-2017
Mayo Clinic
2012
WinnMed
2010
The major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis is a G4C2 repeat expansion in C9ORF72. Efforts to combat neurodegeneration associated with "c9FTD/ALS" are hindered by lack animal models recapitulating disease features. We developed mouse model mimic both neuropathological clinical c9FTD/ALS phenotypes. expressed (G4C2)66 throughout the murine central nervous system means somatic brain transgenesis mediated adeno-associated virus. Brains 6-month-old mice...
Poly(GP) proteins are a promising pharmacodynamic marker for developing and testing therapeutics treating C9ORF72 -associated amyotrophic lateral sclerosis.
<h3>Background</h3> The phosphorylated neurofilament heavy subunit (pNF-H), a major structural component of motor axons, is promising putative biomarker in amyotrophic lateral sclerosis (ALS) but has been studied mainly CSF. We examined pNF-H concentrations plasma, serum and CSF as potential for disease progression survival ALS. <h3>Methodology</h3> measured concentration by monoclonal sandwich ELISA plasma (n=43), (n=20) ALS patients collected at the Mayo Clinic Florida Emory University....
Mutations in the gene encoding fused sarcoma (FUS) were recently identified as a novel cause of amyotrophic lateral sclerosis (ALS), emphasizing genetic heterogeneity ALS. We sequenced genes superoxide dismutase (SOD1), TAR DNA-binding protein 43 (TARDBP) and FUS 99 sporadic 17 familial ALS patients ascertained at Mayo Clinic. two mutations out (2.0%) established de novo occurrence one mutation. In patients, we three (17.6%) SOD1 mutations, while TARDBP excluded. The mutation (g.10747A>G;...
Clinical and neuropathological characteristics associated with G4C2 repeat expansions in chromosome 9 open reading frame 72 (C9ORF72), the most common genetic cause of amyotrophic lateral sclerosis (ALS) frontotemporal dementia, are highly variable. To gain insight on molecular basis for heterogeneity among C9ORF72 mutation carriers, we evaluated associations between features disease levels two abundantly expressed "c9RAN proteins" produced by repeat-associated non-ATG (RAN) translation...
To assess the safety, tolerability, and preliminary efficacy of NP001, a novel immune regulator inflammatory monocytes/macrophages, for slowing progression amyotrophic lateral sclerosis (ALS).This was phase 2 randomized, double-blind, placebo-controlled trial NP001 in 136 patients with ALS <3 years' duration forced vital capacity ≥70%. Participants received mg/kg, 1 or placebo 6 months. Safety, biomarkers were assessed throughout study. Preliminary evaluated using Functional Rating...
The valosin containing protein (VCP) is a member of the AAA-ATPase family, group enzymatic molecular chaperones that have been associated with range cellular processes including ubiquitin-proteasome mediated degradation, membrane fusion, apoptosis, cell-cycle control, and autophagy.1 Mutations in VCP were first identified to cause familial inclusion body myopathy early-onset Paget disease frontotemporal dementia2 (IBMPFD) more recently found be implicated amyotrophic lateral sclerosis...