Biochemistry & Analytical Biochemistry

Jens R Coorssen

Publications

• Research Article
  Isolation and Identification of ER Associated Proteins with Unique Expression Changes Specific to the V144D SPTLC1 Mutations in HSN-I
  Author(s): Scott E Stimpson, Antonio Lauto, Jens R Coorssen and Simon J MyersScott E Stimpson, Antonio Lauto, Jens R Coorssen and Simon J Myers
  
  Axonal degeneration is the final common path in many neurological disorders. Hereditary sensory neuropathies (HSN) are a group of neuropathies involving the sensory neurons. The most common subtype is autosomal dominant hereditary sensory neuropathy type I (HSN-I). Progressive degeneration of the dorsal root ganglion (DRG) neuron with an onset of clinical symptoms between the second or third decade of life characterises HSN-I. Mutations in the serine palmitoyltransferase (SPT) long chain subunit 1 (SPTLC1) gene cause HSN-I. The endoplasmic reticulum (ER) is a dynamic organelle that houses the SPTLC1 protein. Ultra structural analysis has shown the ER in the HSN-I mutant cells to wrap around dysfunctional mitochondria and tethers them to the perinucleus. This investigation establishes that the V144D mutant of SPTLC1 alters the expression of and potentially interacts with a set of prote.. View More»
  DOI: 10.4172/2161-1009.1000248

  Abstract PDF