A5047383009- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Amyotrophic Lateral Sclerosis Research
- Cardiomyopathy and Myosin Studies
- Peripheral Artery Disease Management
- Receptor Mechanisms and Signaling
- SMEs Development and Digital Marketing
- Nuclear Structure and Function
- Cancer, Lipids, and Metabolism
- Retinal Development and Disorders
- Ion channel regulation and function
- Diabetes Treatment and Management
- Colorectal Cancer Treatments and Studies
- Diagnosis and Treatment of Venous Diseases
- Mitochondrial Function and Pathology
- Computational Drug Discovery Methods
- RNA modifications and cancer
- Neurological diseases and metabolism
- Hormonal and reproductive studies
- RNA Research and Splicing
- Radiomics and Machine Learning in Medical Imaging
- Drug Transport and Resistance Mechanisms
- Genetic Neurodegenerative Diseases
- BRCA gene mutations in cancer
- Microbial Natural Products and Biosynthesis
Harvard University
2024-2025
The Ohio State University
2018-2025
Boston VA Research Institute
2024
University of California, San Diego
2024
Nationwide Children's Hospital
2024
The Ohio State University Wexner Medical Center
2019-2023
Tarumanagara University
2021-2023
Northeast Amyotrophic Lateral Sclerosis Consortium
2021
Universitat de València
2021
Neurology, Inc
2021
Treatment of MDCK cells with glucagon results in decreases glucagon, NaF and prostaglandin E1-stimulated adenylyl cyclase activities, indicating the occurrence a heterologous desensitization process. The extent was time concentration dependent. Maximal (30-50% decrease stimulation by various effectors) obtained 4 h at 100 nM glucagon. Glucagon also induced homologous since after treatment, Kact specifically increased. 10 microM 8-bromoadenosine 3':5'-monophosphate or forskolin resulted...
The hepatic glucagon receptor was covalently labeled with [125I-Try10]monoiodoglucagon [( 125I]MIG) by use of the heterobifunctional cross-linker hydroxysuccinimidyl p-azidobenzoate. Labeling Mr = 63,000 peptide sensitive to and GTP at concentrations which they affect [125I]MIG binding receptor. solubilized Lubrol-PX, hydrodynamic characteristics were determined. molecular parameters are: S20,w 4.3 +/- 0.1, Stokes radius 6.3 0.1 nm, frictional coefficient f/f0 1.8, a calculated 119,000....
The neuromuscular junction (NMJ) is the linchpin of nerve-evoked muscle contraction. Broadly, function NMJ to transduce nerve action potentials into fiber (MFAPs). Efficient transmission requires both cholinergic signaling, responsible for generation endplate (EPPs), and excitation, amplification EPP by postsynaptic voltage-gated sodium channels (Nav1.4) generate MFAP. In contrast component, signaling pathways that organize Nav1.4 mediate excitability are poorly characterized....
<title>Abstract</title> Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder marked by progressive motor neuron degeneration in the primary cortex (PMC) and spinal cord. Aging key factor ALS onset progression, with evidence suggesting that biological aging—a process involving cellular decline— far outpaces chronological aging ALS. This promotes senescent cell accumulation—marked irreversible cell-cycle arrest, impaired apoptosis, chronic inflammation—disrupting tissue...
In purified preparations of human erythrocyte GTPbinding proteins, we have identified a new substrate for pertussis toxin, which has an apparent molecular
To retrospectively evaluate the utility of serum and cerebrospinal fluid (CSF) levels neurofilament light chain (NfL) phosphorylated heavy (pNfH) as biomarkers for spinal muscular atrophy (SMA) progression response to nusinersen treatment.NfL pNfH were quantified using single molecular array (SIMOA) in CSF 33 adult SMA patients (SMN copy number 3-5) before treatment. In 11 patients, blood samples also collected. NfL from compared Nfs age-matched controls without neurological disease (n = 6)....
Kinesin family member 5A (KIF5A) is an essential, neuron-specific microtubule-associated motor protein responsible for the anterograde axonal transport of various cellular cargos. Loss function variants in N-terminal, microtubule-binding domain are associated with hereditary spastic paraplegia and neuropathy. These result a loss ability mutant to process along microtubules. Contrastingly, gain splice-site C-terminal, cargo-binding KIF5A amyotrophic lateral sclerosis (ALS), neurodegenerative...
Purpose. Vascular endothelial growth factor (VEGF) causes widespread retinal vascular dilation, produces breakdown of the blood-retinal barrier, and is implicated in ocular neovascularization (NV). Basic fibroblast (bFGF) also has been production NV. This study was performed to investigate ability simultaneous sustained intravitreal release both VEGF bFGF induce robust NV rabbit. Methods. Intravitreal implantation sustained-release Hydron polymeric pellets containing 20 µg on adult male...
Adult rats were made bilaterally cryptorchid and studied at intervals of 3, 7, 14 or 21 days to study temporal changes in Leydig cell function. Serum FSH LH levels measured the cross-sectional area cells assessed by morphometry. The function was judged binding 125I-labelled hCG testicular tissue vitro testosterone response testis stimulation vitro. By 3 after cryptorchidism, labelled significantly decreased compared that controls, but testes able respond At an enhanced observed size greater...
The neurodevelopmental disorder Pitt Hopkins syndrome (PTHS) causes clinical symptoms similar to Rett (RTT) patients. However, RTT is caused by MECP2 mutations whereas in the TCF4 gene lead PTHS. mechanistic commonalities underling these two disorders are unknown, but their shared symptomology suggest that convergent pathway-level disruption likely exists. We reprogrammed patient skin derived fibroblasts into induced neuronal progenitor cells. Interestingly, we discovered MeCP2 levels were...
The effect of the glucagon receptor on activation stimulatory GTP-binding protein adenylyl cyclase (Gs) in native rat liver membrane environment was studied. activated state Gs assessed by its ability to reconstitute cyc- S49 cell cyclase. saturating concentrations guanosine 5'-thiotriphosphate (GTP gamma S) or guanyl-5'-yl imidodiphosphate a hormone-dependent manner at 0.4 mM Mg2+ membranes that had been treated with 1 N-ethylmaleimide eliminate catalytic activity At 50 Mg2+, fully GTP S...
There is growing evidence to suggest that non-typeable Hemophilus influenzae (NTHi), an important cause of otitis media in children, able grow as a biofilm the middle ear. This observation may help explain bacterial persistence chronic infections. We evaluate usefulness rapid freezing and freeze substitution means preparing biofilms for ultrastructural examination by comparing morphology cryofixed specimens with produced using more conventional chemical fixation dehydration methods. Chemical...
Thrombospondin-1 (TSP) is a 450-KD glycoprotein that was initially discovered in the platelet alpha-granule. It now appears TSP intimately involved regulation of variety cellular functions and cell-to-cell interactions. Recently, it has been demonstrated as p53-dependent inhibitor angiogenesis cultured fibroblasts from Li-Fraumeni patients therefore may be an important factor with tumor invasion metastasis. previously can detected frozen tissue sections by immunohistochemical methods. Our...
Abstract Background Variants in TTN are frequently identified the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to high frequency variants general population, incomplete penetrance, and limited understanding spectrum disease, interpretation is often difficult for laboratories clinicians. Currently, cardiomyopathy associated with heterozygous A‐band variants, whereas largely homozygous compound variants. Recent reports show pathogenic may result a broader phenotypic...
To report the frequency of amyotrophic lateral sclerosis (ALS) genetic variants in a nationwide cohort clinic-based patients with ALS family history (fALS), dementia (dALS), or both and (fALS/dALS).A multicenter, prospective 573 fALS, dALS, fALS/dALS, underwent testing Genetic Access Program (ALS GAP), clinical program for clinics Northeast Consortium. Patients dALS C9orf72 hexanucleotide repeat expansion (HRE) testing; those fALS fALS/dALS HRE testing, followed by sequencing SOD1, FUS,...
The pioneering studies by Greep and co-workers (Greep et al. 1936) established that two gonadotrophic hormones FSH LH could be extracted from mammalian pituitary glands. From these observations the of Smith on hypophysectomised animals (Smith 1930) concept was developed acted seminiferous tubules interstitial cells testis. Advances in techniques available to isolate proteins has enabled purification characterisation amino acid sequences peptide subunits LH. These purified glycoprotein have...
Single-nucleotide variants (SNVs) in the gene encoding Kinesin Family Member 5A (KIF5A), a neuronal motor protein involved anterograde transport along microtubules, have been associated with amyotrophic lateral sclerosis (ALS). ALS is rapidly progressive and fatal neurodegenerative disease that primarily affects neurons. Numerous ALS-associated KIF5A SNVs are clustered near splice-site junctions of penultimate exon 27 predicted to alter carboxy-terminal (C-term) cargo-binding domain KIF5A....
Abstract Background Pathogenic variants in TTN (OMIM 188840), encoding the largest human protein, are known to cause dilated cardiomyopathy and several forms of skeletal myopathy. The clinical interpretation is challenging, however, due frequency missense changes, variable testing reporting practices commercial laboratories, incomplete understanding spectrum TTN‐ related disease. Methods We report a heterozygous deletion segregating family with an unusual myopathy phenotype associated facial...
The neuromuscular junction (NMJ) is the linchpin of nerve-evoked muscle contraction. Broadly considered, function NMJ to transduce a nerve action potential into fiber (MFAP). Efficient information transfer requires both cholinergic signaling, responsible for generation endplate potentials (EPPs), and excitation, activation postsynaptic voltage-gated sodium channels (Nav1.4) trigger MFAPs. In contrast apparatus, signaling pathways that organize Nav1.4 excitability are poorly characterized....