Laura C. Bott
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View article: Hetero-oligomerization of TDP-43 carboxy-terminal fragments with cellular proteins contributes to proteotoxicity
Hetero-oligomerization of TDP-43 carboxy-terminal fragments with cellular proteins contributes to proteotoxicity Open
View article: Nuclear receptor signaling via NHR-49/MDT-15 regulates stress resilience and proteostasis in response to reproductive and metabolic cues
Nuclear receptor signaling via NHR-49/MDT-15 regulates stress resilience and proteostasis in response to reproductive and metabolic cues Open
The ability to sense and respond to proteotoxic insults declines with age, leaving cells vulnerable to chronic and acute stressors. Reproductive cues modulate this decline in cellular proteostasis to influence organismal stress resilience …
View article: Nuclear receptor signaling via NHR-49/MDT-15 regulates stress resilience and proteostasis in response to reproductive and metabolic cues
Nuclear receptor signaling via NHR-49/MDT-15 regulates stress resilience and proteostasis in response to reproductive and metabolic cues Open
The ability to sense and respond to proteotoxic insults declines with age, leaving cells vulnerable to chronic and acute stressors. Reproductive cues modulate this decline in cellular proteostasis to influence organismal stress resilience …
View article: Hetero-oligomerization of TDP-43 carboxy-terminal fragments with cellular proteins contributes to proteotoxicity
Hetero-oligomerization of TDP-43 carboxy-terminal fragments with cellular proteins contributes to proteotoxicity Open
Carboxy terminal fragments (CTFs) of TDP-43 contain an intrinsically disordered region (IDR) and form cytoplasmic condensates containing amyloid fibrils. Such condensates are toxic and associated with pathogenicity in amyotrophic lateral s…
View article: Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy Open
The vacuolar H+-ATPase is a large multi-subunit proton pump, composed of an integral membrane V0 domain, involved in proton translocation, and a peripheral V1 domain, catalysing ATP hydrolysis. This complex is widely distributed on the mem…
View article: Biallelic and <i>de novo</i> variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
Biallelic and <i>de novo</i> variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy Open
The vacuolar H + -ATPase is a large multi-subunit proton pump, composed of an integral membrane V0 domain, involved in proton translocation, and a peripheral V1 domain, catalysing ATP hydrolysis. This complex is widely distributed on the m…
View article: Embryo integrity regulates maternal proteostasis and stress resilience
Embryo integrity regulates maternal proteostasis and stress resilience Open
The proteostasis network is regulated by transcellular communication to promote health and fitness in metazoans. In Caenorhabditis elegans , signals from the germline initiate the decline of proteostasis and repression of cell stress respo…
View article: Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents Open
RNA interference via the endogenous miRNA pathway regulates gene expression by controlling protein synthesis through post-transcriptional gene silencing. In recent years, miRNA-mediated gene regulation has shown potential for treatment of …
View article: Shaping proteostasis at the cellular, tissue, and organismal level
Shaping proteostasis at the cellular, tissue, and organismal level Open
The proteostasis network (PN) regulates protein synthesis, folding, transport, and degradation to maintain proteome integrity and limit the accumulation of protein aggregates, a hallmark of aging and degenerative diseases. In multicellular…
View article: The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/CCdh1 ubiquitin ligase complex
The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/CCdh1 ubiquitin ligase complex Open
View article: A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy
A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy Open
Spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease) is one of nine neurodegenerative disorders that are caused by expansion of polyglutamine-encoding CAG repeats. Intracellular accumulation of abnormal proteins in th…
View article: MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy
MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy Open
View article: Sexual Reassignment Fails to Prevent Kennedy’s Disease
Sexual Reassignment Fails to Prevent Kennedy’s Disease Open
Spinal and bulbar muscular atrophy is caused by polyglutamine expansion in the androgen receptor. As an X-linked disease dependent on androgens, symptoms and findings are only fully manifest in males. Here we describe a 40-year-old male-to…
View article: The polyglutamine-expanded androgen receptor has increased DNA binding and reduced transcriptional activity
The polyglutamine-expanded androgen receptor has increased DNA binding and reduced transcriptional activity Open
View article: Mutation in<i>CPT1C</i>Associated With Pure Autosomal Dominant Spastic Paraplegia
Mutation in<i>CPT1C</i>Associated With Pure Autosomal Dominant Spastic Paraplegia Open
This study expands the genetics of autosomal dominant HSP and is the first, to our knowledge, to link mutation in CPT1C with a human disease. The association of the CPT1C mutation with changes in lipid droplet biogenesis supports a role fo…
View article: SPINAL AND BULBAR MUSCULAR ATROPHY: NEW INSIGHTS INTO THE DISEASE MECHANISM AND PROSPECTS FOR PHARMACOLOGICAL THERAPY
SPINAL AND BULBAR MUSCULAR ATROPHY: NEW INSIGHTS INTO THE DISEASE MECHANISM AND PROSPECTS FOR PHARMACOLOGICAL THERAPY Open
Expansion of a polyglutamine-encoding trinucleotide CAG repeat in the androgen receptor (AR) gene causes spinal and bulbar muscular atrophy (SBMA, or Kennedy’s disease). SBMA is an adult-onset disease characterized by progressive muscle we…