Wilson, Emma R Kugathasan, Umaiyal Abramov, Andrey Y Clark, Alex J Bennett, David L H Reilly, Mary M Greensmith, Linda Kalmar, Bernadett
Published in
Neurobiology of disease
Hereditary sensory neuropathy type 1 (HSN-1) is a peripheral neuropathy most frequently caused by mutations in the SPTLC1 or SPTLC2 genes, which code for two subunits of the enzyme serine palmitoyltransferase (SPT). SPT catalyzes the first step of de novo sphingolipid synthesis. Mutations in SPT result in a change in enzyme substrate specificity, w...
Cordella, Alberto Krashia, Paraskevi Nobili, Annalisa Pignataro, Annabella La Barbera, Livia Viscomi, Maria Teresa Valzania, Alessandro Keller, Flavio Ammassari-Teule, Martine Mercuri, Nicola Biagio
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Published in
Neurobiology of disease
The functional loop involving the ventral tegmental area (VTA), dorsal hippocampus and nucleus accumbens (NAc) plays a pivotal role in the formation of spatial memory and persistent memory traces. In particular, the dopaminergic innervation from the VTA to the hippocampus is critical for hippocampal-related memory function and alterations in the mi...
Alcalay, R N Wolf, P Levy, O A Kang, U J Waters, C Fahn, S Ford, B Kuo, S H Vanegas, N Shah, H
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Neurobiology of disease
Glucocerebrosidase (GCase, deficient in Gaucher disease) enzymatic activity measured in dried blood spots of Parkinson's Disease (PD) cases is within healthy range but reduced compared to controls. It is not known whether activities of additional lysosomal enzymes are reduced in dried blood spots in PD. To test whether reduction in lysosomal enzyma...
Iffland, Philip H 2nd Baybis, Marianna Barnes, Allan E Leventer, Richard J Lockhart, Paul J Crino, Peter B
Published in
Neurobiology of disease
Mutations in DEPDC5 and NPRL3 subunits of GATOR1, a modulator of mechanistic target of rapamycin (mTOR), are linked to malformations of cortical development (MCD). Brain specimens from these individuals reveal abnormal cortical lamination, altered cell morphology, and hyperphosphorylation of ribosomal S6 protein (PS6), a marker for mTOR activation....
Sá, Susana I Teixeira, Natércia Fonseca, Bruno M
Published in
Neurobiology of disease
Tamoxifen (TAM) is a selective estrogen receptor modulator, widely used in the treatment and prevention of estrogen-dependent breast cancer. Although with great clinical results, women on TAM therapy still report several side effects, such as sexual dysfunction, which impairs quality of life. The anatomo-functional substrates of the human sexual be...
Bagla, Shruti Cukovic, Daniela Asano, Eishi Sood, Sandeep Luat, Aimee Chugani, Harry T Chugani, Diane C Dombkowski, Alan A
Published in
Neurobiology of disease
Tuberous sclerosis complex (TSC) is characterized by hamartomatous lesions in various organs and arises due to mutations in the TSC1 or TSC2 genes. TSC mutations lead to a range of neurological manifestations including epilepsy, cognitive impairment, autism spectrum disorders (ASD), and brain lesions that include cortical tubers. There is evidence ...
Cardis, Romain Cabungcal, Jan-Harry Dwir, Daniella Do, Kim Q Steullet, Pascal
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Neurobiology of disease
The GluN2A subunit of NMDA receptors (NMDARs) plays a critical role during postnatal brain development as its expression increases while Glun2B expression decreases. Mutations and polymorphisms in GRIN2A gene, coding for GluN2A, are linked to developmental brain disorders such as mental retardation, epilepsy, schizophrenia. Published data suggest t...
Chang, Michael Dian, Joshua A Dufour, Suzie Wang, Lihua Moradi Chameh, Homeira Ramani, Meera Zhang, Liang Carlen, Peter L Womelsdorf, Thilo Valiante, Taufik A
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Neurobiology of disease
Activation of γ-aminobutyric acid (GABAA) receptors have been associated with the onset of epileptiform events. To investigate if a causal relationship exists between GABAA receptor activation and ictal event onset, we activated inhibitory GABAergic networks in the superficial layer (2/3) of the somatosensory cortex during hyperexcitable conditions...
Shrestha, Bandana Jiang, Xi Ge, Shujun Paul, Debayon Chianchiano, Peter Pachter, Joel S
Published in
Neurobiology of disease
Experimental autoimmune encephalomyelitis (EAE) induced by active immunization of C57BL/6 mice with peptide from myelin oligodendrocyte protein (MOG35-55), is a neuroinflammatory, demyelinating disease widely recognized as an animal model of multiple sclerosis (MS). Typically, EAE presents with an ascending course of paralysis, and inflammation tha...
Port, Russell G Gajewski, Christopher Krizman, Elizabeth Dow, Holly C Hirano, Shinji Brodkin, Edward S Carlson, Gregory C Robinson, Michael B Roberts, Timothy P L Siegel, Steven J
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Published in
Neurobiology of disease
Approximately one in 45 children have been diagnosed with Autism Spectrum Disorder (ASD), which is characterized by social/communication impairments. Recent studies have linked a subset of familial ASD to mutations in the Protocadherin 10 (Pcdh10) gene. Additionally, Pcdh10's expression pattern, as well as its known role within protein networks, im...
