Michael W. Schmidtke
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View article: Expansion of the Phenotypic and Genotypic Spectrum for <scp> <i>PRKAR1B</i> </scp> ‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series
Expansion of the Phenotypic and Genotypic Spectrum for <span> <i>PRKAR1B</i> </span> ‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series Open
Marbach–Schaaf neurodevelopmental syndrome (MASNS) is an ultra‐rare, monogenic disease caused by pathogenic variation in PRKAR1B , which codes for the R1β regulatory subunit of protein kinase A (PKA), a key effector of cAMP signaling withi…
View article: Abstract 2303 Cardiolipin at the epicenter of energy metabolism – implications for Barth syndrome
Abstract 2303 Cardiolipin at the epicenter of energy metabolism – implications for Barth syndrome Open
Cardiolipin (CL), the signature lipid of the mitochondrial membrane, is crucial for optimal mitochondrial function and bioenergetics. Perturbation of CL metabolism due to mutation of the TAFAZZIN (TAZ) gene leads to the life-threatening di…
View article: Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction and leads to increased glucose uptake in tafazzin-deficient cells
Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction and leads to increased glucose uptake in tafazzin-deficient cells Open
Barth syndrome (BTHS) is a rare disorder caused by mutations in the TAFAZZIN gene. Previous studies from both patients and model systems have established metabolic dysregulation as a core component of BTHS pathology. In particular, feature…
View article: Decreased pyruvate dehydrogenase activity in Tafazzin-deficient cells is caused by dysregulation of pyruvate dehydrogenase phosphatase 1 (PDP1)
Decreased pyruvate dehydrogenase activity in Tafazzin-deficient cells is caused by dysregulation of pyruvate dehydrogenase phosphatase 1 (PDP1) Open
Cardiolipin (CL), the signature lipid of the mitochondrial inner membrane, is critical for maintaining optimal mitochondrial function and bioenergetics. Disruption of CL metabolism, caused by mutations in the CL remodeling enzyme TAFAZZIN,…
View article: Application of a catch multiple survey analysis for Atlantic horseshoe crab <i>Limulus polyphemus</i> in the Delaware Bay
Application of a catch multiple survey analysis for Atlantic horseshoe crab <i>Limulus polyphemus</i> in the Delaware Bay Open
Objective This paper applies a catch multiple survey analysis (CMSA) to Atlantic horseshoe crabs Limulus polyphemus in the Delaware Bay to generate robust population estimates for harvest management. Currently, horseshoe crabs along the U.…
View article: Cardiolipin metabolism regulates expression of muscle transcription factor MyoD1 and muscle development
Cardiolipin metabolism regulates expression of muscle transcription factor MyoD1 and muscle development Open
The mitochondrial phospholipid cardiolipin (CL) is critical for numerous essential biological processes, including mitochondrial dynamics and energy metabolism. Mutations in the CL remodeling enzyme TAFAZZIN cause Barth syndrome, a life-th…
View article: Phosphatidic acid inhibits inositol synthesis by inducing nuclear translocation of kinase IP6K1 and repression of myo-inositol-3-P synthase
Phosphatidic acid inhibits inositol synthesis by inducing nuclear translocation of kinase IP6K1 and repression of myo-inositol-3-P synthase Open
Inositol is an essential metabolite that serves as a precursor for structural and signaling molecules. Although perturbation of inositol homeostasis has been implicated in numerous human disorders, surprisingly little is known about how in…
View article: Current Knowledge on the Role of Cardiolipin Remodeling in the Context of Lipid Oxidation and Barth Syndrome
Current Knowledge on the Role of Cardiolipin Remodeling in the Context of Lipid Oxidation and Barth Syndrome Open
Barth syndrome (BTHS, OMIM 302060) is a genetic disorder caused by variants of the TAFAZZIN gene (G 4.5, OMIM 300394). This debilitating disorder is characterized by cardio- and skeletal myopathy, exercise intolerance, and neutropenia. TAF…
View article: Inositol depletion regulates phospholipid metabolism and activates stress signaling in HEK293T cells
Inositol depletion regulates phospholipid metabolism and activates stress signaling in HEK293T cells Open
Inositol plays a significant role in cellular function and signaling. Studies in yeast have demonstrated an “inositol-less death” phenotype, suggesting that inositol is an essential metabolite. In yeast, inositol synthesis is highly regula…
View article: Studying Lipid-Related Pathophysiology Using the Yeast Model
Studying Lipid-Related Pathophysiology Using the Yeast Model Open
Saccharomyces cerevisiae , commonly known as baker’s yeast, is one of the most comprehensively studied model organisms in science. Yeast has been used to study a wide variety of human diseases, and the yeast model system has proved to be a…
View article: The Role of the UPR Pathway in the Pathophysiology and Treatment of Bipolar Disorder
The Role of the UPR Pathway in the Pathophysiology and Treatment of Bipolar Disorder Open
Bipolar disorder (BD) is a mood disorder that affects millions worldwide and is associated with severe mood swings between mania and depression. The mood stabilizers valproate (VPA) and lithium (Li) are among the main drugs that are used t…
View article: The synaptotagmin C2B domain calcium-binding loops modulate the rate of fusion pore expansion
The synaptotagmin C2B domain calcium-binding loops modulate the rate of fusion pore expansion Open
In chromaffin cells, the kinetics of fusion pore expansion vary depending on which synaptotagmin isoform (Syt-1 or Syt-7) drives release. Our recent studies have shown that fusion pores of granules harboring Syt-1 expand more rapidly than …
View article: Synaptotagmin isoforms confer distinct activation kinetics and dynamics to chromaffin cell granules
Synaptotagmin isoforms confer distinct activation kinetics and dynamics to chromaffin cell granules Open
Adrenomedullary chromaffin cells respond to sympathetic nervous system activation by secreting a cocktail of potent neuropeptides and hormones into the circulation. The distinct phases of the chromaffin cell secretory response have been at…
View article: Synaptotagmin C2b Ca2+-Binding Loops Impose Distinct Exocytosis Phenotypes
Synaptotagmin C2b Ca2+-Binding Loops Impose Distinct Exocytosis Phenotypes Open
Regulated exocytosis from chromaffin cells in the adrenal medulla plays a critical role in maintaining organismal homeostasis. In the absence of stress, these cells release physiologically relevant substances into the blood stream only in …