Franziska G. Thiel
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View article: Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies Open
Neurodevelopmental proteasomopathies are a group of disorders caused by variants in proteasome subunit genes, that disrupt protein homeostasis and brain development through poorly characterized mechanisms. Here, we report 26 distinct varia…
View article: A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis Open
The DN-PSMB8 p.G209R variant broadens the clinical and mechanistic PRAAS spectrum by causing 20S proteasome maturation arrest and uncovering a convergence between mitochondrial dysfunction and the ISR. Our findings implicate cytopenia in a…
View article: A De Novo Dominant-Negative PSMB8 Mutation Causes Severe CANDLE/PRAAS Due to Arrested Proteasome Biogenesis
A De Novo Dominant-Negative PSMB8 Mutation Causes Severe CANDLE/PRAAS Due to Arrested Proteasome Biogenesis Open
View article: Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies Open
Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis.…
View article: IRAK3-mediated suppression of pro-inflammatory MyD88/IRAK signaling affects disease severity in acute pancreatitis
IRAK3-mediated suppression of pro-inflammatory MyD88/IRAK signaling affects disease severity in acute pancreatitis Open
View article: Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1)
Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1) Open
Inborn mutations in the digestive protease carboxypeptidase A1 (CPA1) gene may be associated with hereditary and idiopathic chronic pancreatitis (CP). Pathogenic mutations, such as p.N256K, cause intracellular retention and reduced secreti…
View article: A rare PRSS1 p.S127C mutation is associated with chronic pancreatitis and causes misfolding-induced ER-stress
A rare PRSS1 p.S127C mutation is associated with chronic pancreatitis and causes misfolding-induced ER-stress Open
The disease mechanism of the PRSS1 p.S127C variant involves defective protein secretion and the induction of ER-stress due to accumulation of presumably misfolded trypsinogen within the ER. The new variant should be considered disease-caus…
View article: Role of Bile Acids and Bile Salts in Acute Pancreatitis
Role of Bile Acids and Bile Salts in Acute Pancreatitis Open
Acute pancreatitis (AP) is one of the most common gastroenterological disorders leading to hospitalization. It has long been debated whether biliary AP, about 30% to 50% of all cases, is induced by bile acids (BAs) when they reach the panc…
View article: Early trypsin activation develops independently of autophagy in caerulein-induced pancreatitis in mice
Early trypsin activation develops independently of autophagy in caerulein-induced pancreatitis in mice Open