Markus Schuelke
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View article: MCT8 Deficiency in Females
MCT8 Deficiency in Females Open
Context Monocarboxylate transporter (MCT) 8 facilitates thyroid hormone (TH) transport across the blood-brain barrier. Pathogenic variants in SLC16A2 cause MCT8 deficiency (Allan-Herndon-Dudley syndrome), characterized by intellectual and …
View article: Single-cell multi-omics resolved analysis of mitochondrial genome-wide mutational burden, constraint, and mosaicism
Single-cell multi-omics resolved analysis of mitochondrial genome-wide mutational burden, constraint, and mosaicism Open
Mitochondria contain their own circular, multi-copy genome, encoding essential components of the mitochondrial respiratory chain vital for cellular metabolism. Mitochondrial DNA (mtDNA) mutations occur more frequently than nuclear mutation…
View article: Pluripotent stem cell-based drug discovery uncovers sildenafil as a treatment for mitochondrial disease
Pluripotent stem cell-based drug discovery uncovers sildenafil as a treatment for mitochondrial disease Open
Mitochondrial disease encompasses inherited disorders affecting mitochondrial function. A severe and untreatable form of mitochondrial disease is Leigh syndrome (LS) causing psychomotor regression and metabolic crises. To accelerate drug d…
View article: The use of carbogen for interruption of febrile seizures - the randomized controlled CARDIF trial
The use of carbogen for interruption of febrile seizures - the randomized controlled CARDIF trial Open
Febrile seizures are the most common seizure disorder in children. Fever-induced hyperventilation and subsequent hypocapnia may precipitate febrile seizures. In preclinical studies and in individual children, increasing CO 2 partial pressu…
View article: Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8 Open
Our results define a more accurate classification based on the age at onset for MT-ATPase deficiency and provide fundamental clinical and biochemical data for disease management.
View article: Patients with Allan‐Herndon‐Dudley Syndrome (<scp>MCT8</scp> Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment
Patients with Allan‐Herndon‐Dudley Syndrome (<span>MCT8</span> Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment Open
Background Patients with mutations in the monocarboxylate transporter 8 (MCT8, SLC16A2 ) suffer from X‐linked recessive Allan‐Herndon‐Dudley syndrome (AHDS), which is characterized by developmental delay and a severe movement disorder. Cur…
View article: Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy
Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy Open
Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide…
View article: Bichromatic Splicing Detector Allows Quantification of THRA1 and THRA2 Splicing Isoforms in Single Cells by Fluorescent Live-Cell Imaging
Bichromatic Splicing Detector Allows Quantification of THRA1 and THRA2 Splicing Isoforms in Single Cells by Fluorescent Live-Cell Imaging Open
Thyroid hormone receptor alpha (THRα) is a nuclear hormone receptor that binds triiodothyronine (T3) and acts as an important transcription factor in development, metabolism, and reproduction. The coding gene, THRA, has two major splicing …
View article: Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy
Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy Open
Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide…
View article: Bichromatic Splicing Detector Allows Quantification of THRA1 and THRA2 Splicing Isoforms in Single Cells by Fluorescent Live-Cell Imaging
Bichromatic Splicing Detector Allows Quantification of THRA1 and THRA2 Splicing Isoforms in Single Cells by Fluorescent Live-Cell Imaging Open
Thyroid hormone receptor alpha (THRα) is a nuclear hormone receptor that binds triiodothyronine (T3) and acts as an important transcription factor in development, metabolism, and reproduction. The coding gene, THRA, has two major splicing …
View article: Disease models of Leigh syndrome: From yeast to organoids
Disease models of Leigh syndrome: From yeast to organoids Open
Leigh syndrome (LS) is a severe mitochondrial disease that results from mutations in the nuclear or mitochondrial DNA that impairs cellular respiration and ATP production. Mutations in more than 100 genes have been demonstrated to cause LS…
View article: RNA Sequencing Reveals a Strong Predominance of THRA Splicing Isoform 2 in the Developing and Adult Human Brain
RNA Sequencing Reveals a Strong Predominance of THRA Splicing Isoform 2 in the Developing and Adult Human Brain Open
Thyroid hormone receptor alpha (THRα) is a nuclear hormone receptor that binds triiodothyronine (T3) and acts as an important transcription factor in development, metabolism, and reproduction. In mammals, THRα has two major splicing isofor…
View article: Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment
Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment Open
Background: Patients with mutations in the monocarboxylate transporter 8 (MCT8) suffer from Allan-Herndon-Dudley syndrome (AHDS), characterized by developmental delay and a highly disabling movement disorder. Despite the potential of thyro…
View article: A Novel De Novo Gain-of-Function <i>CACNA1D</i> Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia
A Novel De Novo Gain-of-Function <i>CACNA1D</i> Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia Open
Background and Objectives De novo gain-of-function variants in the CACNA1D gene, encoding the L-type voltage-gated Ca2+ channel CaV1.3, cause a multifaceted syndrome. Patients show variable degrees of autism spectrum disorder, developmenta…
View article: Characterization of two iPSC lines from patients with maternally inherited leigh (MILS) and neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome carrying the MT-ATP6 m.8993 T>G mutation at different degrees of heteroplasmy
Characterization of two iPSC lines from patients with maternally inherited leigh (MILS) and neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome carrying the MT-ATP6 m.8993 T>G mutation at different degrees of heteroplasmy Open
Human-derived experimental systems such as induced pluripotent stem cell (iPSC)-derived models are useful tools to study mechanisms and potential therapeutic approaches for mitochondrial disorders. Here, we generated two iPSC lines from fi…
View article: Normal Values for the fT3/fT4 Ratio: Centile Charts (0–29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay
Normal Values for the fT3/fT4 Ratio: Centile Charts (0–29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay Open
Primary congenital hypothyroidism is easily diagnosed on the basis of elevated plasma levels of thyroid-stimulating hormone (TSH). In contrast, in the rare disorders of thyroid hormone resistance, TSH and, in mild cases, also thyroid hormo…
View article: Deep learning-driven neuromorphogenesis screenings identify repurposable drugs for mitochondrial disease
Deep learning-driven neuromorphogenesis screenings identify repurposable drugs for mitochondrial disease Open
Summary Mitochondrial disease encompasses untreatable conditions affecting tissues with high energy demands. A severe manifestation of mitochondrial disease is Leigh syndrome (Leigh), which causes defects in basal ganglia and midbrain regi…
View article: Expression of mGluR5 in Pediatric Hodgkin and Non-Hodgkin lymphoma—A Comparative Analysis of Immunohistochemical and Clinical Findings Regarding the Association between Tumor and Paraneoplastic Neurological Disease
Expression of mGluR5 in Pediatric Hodgkin and Non-Hodgkin lymphoma—A Comparative Analysis of Immunohistochemical and Clinical Findings Regarding the Association between Tumor and Paraneoplastic Neurological Disease Open
Autoantibodies targeting the neuronal antigen metabotropic glutamate receptor 5 (mGluR5) have been identified in patients with Ophelia syndrome, which describes a co-occurrence of paraneoplastic limbic encephalitis and Hodgkin lymphoma (HL…
View article: Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay
Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay Open
Primary congenital hypothyroidism is readily diagnosed based on elevated plasma TSH levels. In contrast, in the rare disorders of thyroid hormone resistance, TSH and often also thyroid hormone levels are within the normal range. Thyroid ho…
View article: A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in <i>COL6A1</i>
A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in <i>COL6A1</i> Open
In the era of low-threshold exome sequencing, deep phenotyping is losing popularity.We report on a family, in which the description of symptoms was crucial for diagnosis finding.A sister and brother sought medical attention for Achilles te…
View article: RNA-sequencing reveals strong predominance of<i>THRA</i>splicing isoform 2 in the developing and adult human brain
RNA-sequencing reveals strong predominance of<i>THRA</i>splicing isoform 2 in the developing and adult human brain Open
Thyroid hormone receptor alpha (THR α ) is a nuclear hormone receptor that binds triiodothyronine (T3) and acts as an important transcription factor in development, metabolism and reproduction. THR α has in mammals two major splicing isofo…
View article: Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review
Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review Open
We recommend that future trials should define a relevant improvement in "development" and/or other patient-relevant outcomes compared to natural history as treatment goals.
View article: Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype Open
The Phospholipid Phosphatase Related 4 gene (PLPPR4, *607813) encodes the Plasticity-Related-Gene-1 (PRG-1) protein. This cerebral synaptic transmembrane-protein modulates cortical excitatory transmission on glutamatergic neurons. In mice,…
View article: Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis
Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis Open
BACKGROUND AND OBJECTIVES: Anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) is the most common form of autoimmune encephalitis in children and adults. Although our understanding of the disease mechanisms has progressed, little is k…