Publications by authors named "K Faller"
The motor neuron disease amyotrophic lateral sclerosis (ALS) is a devastating condition with limited treatment options. The past few years have witnessed a ramping up of translational ALS research, offering the prospect of disease-modifying therapies. Although breakthroughs using gene-targeted approaches have shown potential to treat patients with specific disease-causing mutations, the applicability of such therapies remains restricted to a minority of individuals.
View Article and Find Full Text PDFThe availability of three therapies for the neuromuscular disease spinal muscular atrophy (SMA) highlights the need to match patients to the optimal treatment. Two of these treatments (nusinersen and risdiplam) target splicing of , but treatment outcomes vary from patient to patient. An incomplete understanding of the complex interactions among SMA genetics, SMN protein and mRNA levels, and gene-targeting treatments, limits our ability to explain this variability and identify optimal treatment strategies for individual patients.
View Article and Find Full Text PDFArticle Synopsis
- * The study used advanced techniques such as proteomics and interactomics on mouse models with varying disease severities to identify networks of proteins and their interactions that illuminate both similarities and differences in SMA presentation.
- * By integrating data on the SMN protein with these molecular networks, researchers were able to pinpoint critical connections and disruptions that contribute to SMA, offering a new way to analyze monogenic diseases through a systematic approach.
Background: Spinal muscular atrophy (SMA) is an autosomal recessive childhood-onset neuromuscular disease with a carrier frequency of ~1:50. Mitochondrial abnormalities are widespread in patients with SMA. Disease carriers for SMA (i.
View Article and Find Full Text PDFBackground: Intervertebral disc herniation is widely recognized as the most common cause of myelopathy in dogs older than 2 years; however, the prevalence of various causes of myelopathy in younger dogs has not been reported.
Hypothesis/objectives: To describe the prevalence, clinical presentation, and etiology of myelopathy in dogs aged 18 months or less. Secondarily, to investigate which clinical features were associated with each of the most common etiologies.