Cargando…

Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay

Human startle disease is associated with mutations in distinct genes encoding glycine receptors, transporters or interacting proteins at glycinergic synapses in spinal cord and brainstem. However, a significant number of diagnosed patients does not carry a mutation in the common genes GLRA1, GLRB, a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Drehmann, Paul, Milanos, Sinem, Schaefer, Natascha, Kasaragod, Vikram Babu, Herterich, Sarah, Holzbach-Eberle, Ulrike, Harvey, Robert J., Villmann, Carmen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Society for Neuroscience 2023
Materias:	Research Article: New Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668224/ https://www.ncbi.nlm.nih.gov/pubmed/37903619 http://dx.doi.org/10.1523/ENEURO.0263-23.2023

Ejemplares similares

Novel Functional Properties of Missense Mutations in the Glycine Receptor β Subunit in Startle Disease
por: Piro, Inken, et al.
Publicado: (2021)

Startle Disease: New Molecular Insights into an Old Neurological Disorder
por: Schaefer, Natascha, et al.
Publicado: (2022)

Anxiety and Startle Phenotypes in Glrb Spastic and Glra1 Spasmodic Mouse Mutants
por: Schaefer, Natascha, et al.
Publicado: (2020)

Metabolic Products of Linalool and Modulation of GABA(A) Receptors
por: Milanos, Sinem, et al.
Publicado: (2017)

Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor α1 Subunits in the Shaky Mouse Model of Startle Disease
por: Schaefer, Natascha, et al.
Publicado: (2018)

A child with global developmental delay and excessive startles: Never overlook the family history
por: Krishna, Deepthi, et al.
Publicado: (2022)

Distinct phenotypes in zebrafish models of human startle disease()
por: Ganser, Lisa R., et al.
Publicado: (2013)

Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease
por: Schaefer, Natascha, et al.
Publicado: (2017)

Disturbances of Ligand Potency and Enhanced Degradation of the Human Glycine Receptor at Affected Positions G160 and T162 Originally Identified in Patients Suffering from Hyperekplexia
por: Atak, Sinem, et al.
Publicado: (2015)

The Glycinergic System in Human Startle Disease: A Genetic Screening Approach
por: Davies, Jeff S., et al.
Publicado: (2010)

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
por: Andreoletti, Gaia, et al.
Publicado: (2017)

Structure of Heteropentameric GABA(A) Receptors and Receptor-Anchoring Properties of Gephyrin
por: Kasaragod, Vikram Babu, et al.
Publicado: (2019)

Silencing of ASC in Cutaneous Squamous Cell Carcinoma
por: Meier, Katharina, et al.
Publicado: (2016)

Effects of Cold Pressor Stress on the Human Startle Response
por: Deuter, Christian E., et al.
Publicado: (2012)

The influence of acoustic startle probes on fear learning in humans
por: de Haan, Michelle I. C., et al.
Publicado: (2018)

The Formin Fmn2b Is Required for the Development of an Excitatory Interneuron Module in the Zebrafish Acoustic Startle Circuit
por: Nagar, Dhriti, et al.
Publicado: (2021)

An Unusual Startling
por: Aliyu, Ibrahim, et al.
Publicado: (2015)

Startling Suggestion
Publicado: (1920)

Comprehensive Behavioral Analysis of Opsin 3 (Encephalopsin)-Deficient Mice Identifies Role in Modulation of Acoustic Startle Reflex
por: Upton, Brian A., et al.
Publicado: (2022)

Glycine receptor mutants of the mouse: what are possible routes of inhibitory compensation?
por: Schaefer, Natascha, et al.
Publicado: (2012)

Startling speech: eliciting prepared speech using startling auditory stimulus
por: Chiu, Chenhao, et al.
Publicado: (2014)

Startle evoked movement is delayed in older adults: implications for brainstem processing in the elderly
por: Tresch, Ursina A., et al.
Publicado: (2014)

A Startling Showing
Publicado: (1903)

Sex-Specific Role for Dopamine Receptor D2 in Dorsal Raphe Serotonergic Neuron Modulation of Defensive Acoustic Startle and Dominance Behavior
por: Lyon, Krissy A., et al.
Publicado: (2020)

Evidence for startle as a measurable behavioral indicator of motor learning
por: Kirkpatrick, Nathan J., et al.
Publicado: (2018)

Impaired Glycine Receptor Trafficking in Neurological Diseases
por: Schaefer, Natascha, et al.
Publicado: (2018)

The gray zone squamous lesions: ASC-US / ASC-H
por: Kattoor, Jayasree, et al.
Publicado: (2022)

Prepulse Inhibition of Startle Response: Recent Advances in Human Studies of Psychiatric Disease
por: Takahashi, Hidetoshi, et al.
Publicado: (2011)

Defensive eye-blink startle responses in a human experimental model of anxiety
por: Pinkney, Verity, et al.
Publicado: (2014)

Neural correlates of perceptual separation-induced enhancement of prepulse inhibition of startle in humans
por: Lei, Ming, et al.
Publicado: (2018)

Postural freezing relates to startle potentiation in a human fear‐conditioning paradigm
por: van Ast, Vanessa A., et al.
Publicado: (2021)

No consistent startle modulation by reward
por: Schutte, Iris, et al.
Publicado: (2021)

Treatment of startle and related disorders
por: Lim, Thien Thien, et al.
Publicado: (2023)

Regulation of sleep by KIN-29 is not developmental
por: Grubbs, Jeremy J., et al.
Publicado: (2020)

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
por: Hamilton, Mark J, et al.
Publicado: (2018)

Startling Sweet Temptations: Hedonic Chocolate Deprivation Modulates Experience, Eating Behavior, and Eyeblink Startle
por: Blechert, Jens, et al.
Publicado: (2014)

Developmental origin of the Pair1 descending interneuron
por: Linskens, Amanda, et al.
Publicado: (2022)

ASC Speck Formation after Inflammasome Activation in Primary Human Keratinocytes
por: Smatlik, Nikola, et al.
Publicado: (2021)

The GlyR Extracellular β8–β9 Loop – A Functional Determinant of Agonist Potency
por: Janzen, Dieter, et al.
Publicado: (2017)

3D Spheroids Derived from Human Lipedema ASCs Demonstrated Similar Adipogenic Differentiation Potential and ECM Remodeling to Non-Lipedema ASCs In Vitro
por: Al-Ghadban, Sara, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_f89vb36bta0v266oa1e9ao1re3