Publications by authors named "Kristin Richardson"

Article Synopsis
  • Dentatorubral-pallidoluysian atrophy (DRPLA) is a neurodegenerative disease characterized by symptoms like ataxia, dementia, and epilepsy, caused by an expansion of CAG repeats in the ATROPHIN 1 (ATN1) gene.
  • Researchers developed Drosophila (fruit fly) models that express either normal ATN1 (Q7) or a pathogenic version with expanded repeats (Q88), revealing that the pathogenic variant significantly reduces fly motility, lifespan, and affects internal structures more severely than the normal version.
  • RNA sequencing identified pathways related to protein quality control that are altered by pathogenic ATN1, and subsequent genetic experiments highlighted the
View Article and Find Full Text PDF

Ubiquitin controls many cellular processes via its posttranslational conjugation onto substrates. Its use is highly variable due to its ability to form poly-ubiquitin chains with various topologies. Among them, linear chains have emerged as important regulators of immune responses and protein degradation.

View Article and Find Full Text PDF

Ubiquitin controls many cellular processes via its post-translational conjugation onto substrates. Its use is highly variable due to its ability to form poly-ubiquitin with various topologies. Among them, linear chains have emerged as important regulators of immune responses and protein degradation.

View Article and Find Full Text PDF

Spinal and bulbar muscular atrophy (SBMA) is an X-linked disorder that affects males who inherit the androgen receptor (AR) gene with an abnormal CAG triplet repeat expansion. The resulting protein contains an elongated polyglutamine (polyQ) tract and causes motor neuron degeneration in an androgen-dependent manner. The precise molecular sequelae of SBMA are unclear.

View Article and Find Full Text PDF

Barth Syndrome is a rare, X-linked disorder caused by mutation of the gene TAFAZZIN (TAZ). The corresponding Tafazzin protein is involved in the remodeling of cardiolipin, a phospholipid with critical roles in mitochondrial function. While recent clinical trials have been promising, there is still no cure for Barth Syndrome.

View Article and Find Full Text PDF

Cardiolipin (CL) is a phospholipid required for proper mitochondrial function. Tafazzin remodels CL to create highly unsaturated fatty acid chains. However, when TAFAZZIN is mutated, CL remodeling is impeded, leading to mitochondrial dysfunction and the disease Barth syndrome.

View Article and Find Full Text PDF

Endurance exercise is a potent intervention with widespread benefits proven to reduce disease incidence and impact across species. While endurance exercise supports neural plasticity, enhanced memory, and reduced neurodegeneration, less is known about the effect of chronic exercise on the progression of movement disorders such as ataxias. Here, we focused on three different types of ataxias, spinocerebellar ataxias type (SCAs) 2, 3, and 6, belonging to the polyglutamine (polyQ) family of neurodegenerative disorders.

View Article and Find Full Text PDF

The use of the model for studying the broad beneficial effects of exercise training has grown over the past decade. As work using as an exercise model becomes more widespread, the influence of genetic background on performance should be examined in order to better understand its influence on assessments used to quantitatively measure and compare exercise phenotypes. In this article, we review the various methods of exercise training , and the performance of different wild-type strains on various physiological assessments of exercise response.

View Article and Find Full Text PDF

: Multiple three drug combination regimens have been approved for the treatment of multiple myeloma in the last few years. Triplets have become the new standard of care for transplant eligible and ineligible patients with newly diagnosed as well as relapsed multiple myeloma. Novel agents have a unique profile of side effects.

View Article and Find Full Text PDF

Background: Patients with relapsed and refractory classical Hodgkin lymphoma (cHL) are often treated with autologous hematopoietic cell transplantation (auto-HCT). After auto-HCT, most transplant centers implement routine surveillance imaging to monitor for disease relapse; however, there is limited evidence to support this practice.

Patients And Methods: In this multicenter, retrospective study, we identified cHL patients (n = 128) who received auto-HCT, achieved complete remission (CR) after transplantation, and then were followed with routine surveillance imaging.

View Article and Find Full Text PDF

Breast implant-associated (BIA) anaplastic large-cell lymphoma (ALCL) is a rare disease, comprising a small percentage of all non-Hodgkin lymphomas (NHLs), reportedly 2-3%. There is currently no established standard approach to the treatment of BIA ALCL. The first case on the development of ALCL in the presence of a breast implant was reported in 1997 and the association was first identified by the Food and Drug Administration in 2011.

View Article and Find Full Text PDF
Article Synopsis
  • A multicenter study showed that for patients with relapsed DLBCL who underwent auto-HCT, most relapses (71%) were detected through routine imaging rather than clinical symptoms.
  • The timing and overall survival post-relapse did not significantly differ between those who had imaging-detected relapses and those with clinically detected ones.
  • The findings suggest that while routine surveillance imaging detects many relapses, its overall utility might be limited, except for certain cases where earlier detection could allow for salvage therapy.
View Article and Find Full Text PDF