Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

Phenotypic spectrum of the recurrent TRPM3 p.( Val837Met ) substitution in seven individuals with global developmental delay and hypotonia

(2022) Matthew A. Lines et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structural and functional analyses of a GPCR-inhibited ion channel TRPM3

(2022) Chen Zhao et al.   NEURON

TRPM3 channels play roles in heat hypersensitivity and spontaneous pain after nerve injury

(2021) Songxue Su et al.   JOURNAL OF NEUROSCIENCE

TRPM3 in Brain (Patho)Physiology

(2021) Katharina Held et al.   Frontiers in Cell and Developmental Biology

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

(2021) Qingyun Kang et al.   BMC Pediatrics

Spatial and cell type transcriptional landscape of human cerebellar development

(2021) Kimberly A. Aldinger et al.   NATURE NEUROSCIENCE

Description of a novel patient with the TRPM3 recurrent p.Val837Met variant

(2021) Lucas W Gauthier et al.   European Journal of Medical Genetics

Functional expression and pharmacological modulation of TRPM3 in human sensory neurons

(2020) Laura Vangeel et al.   BRITISH JOURNAL OF PHARMACOLOGY

Defining the TRPM3 related spectrum: Possible ocular and joints defects, and inconstant epilepsy

(2020) Jean-Madeleine de Sainte Agathe et al.   European Journal of Medical Genetics

Disease-associated mutations in the human TRPM3 render the channel overactive via two distinct mechanisms

(2020) Siyuan Zhao et al.   eLife

Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy

(2020) Evelien Van Hoeymissen et al.   eLife

Pharmacological properties of TRPM3 isoforms are determined by the length of the pore loop

(2020) Katharina Held et al.   BRITISH JOURNAL OF PHARMACOLOGY

Emerging connections between cerebellar development, behaviour and complex brain disorders

(2019) Aaron Sathyanesan et al.   NATURE REVIEWS NEUROSCIENCE

Single-cell genomics identifies cell type–specific molecular changes in autism

(2019) Dmitry Velmeshev et al.   SCIENCE

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

(2019) David A. Dyment et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features

(2019) Tokiko Fukuda et al.   European Journal of Medical Genetics

The cerebellum and cognition

(2018) Jeremy D. Schmahmann   NEUROSCIENCE LETTERS

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

Integrative single-cell analysis of transcriptional and epigenetic states in the human adult brain

(2017) Blue B Lake et al.   NATURE BIOTECHNOLOGY

Primidone inhibits TRPM3 and attenuates thermal nociception in vivo

(2017) Ute Krügel et al.   PAIN

G protein βγ subunits inhibit TRPM3 ion channels in sensory neurons

(2017) Talisia Quallo et al.   eLife

Inhibition of Transient Receptor Potential Melastatin 3 ion channels by G-protein βγ subunits

(2017) Doreen Badheka et al.   eLife

Anti-nociceptive action of peripheral mu-opioid receptors by G-beta-gamma protein-mediated inhibition of TRPM3 channels

(2017) Sandeep Dembla et al.   eLife

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

(2016) Elisabeth M. Lodder et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

(2016) Slavé Petrovski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consensus Paper: Cerebellar Development

(2015) Ketty Leto et al.   CEREBELLUM

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Activation of TRPM3 by a potent synthetic ligand reveals a role in peptide release

(2015) Katharina Held et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

Opening of an alternative ion permeation pathway in a nociceptor TRP channel

(2014) Joris Vriens et al.   Nature Chemical Biology

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Activation of steroid-sensitive TRPM3 channels potentiates glutamatergic transmission at cerebellar Purkinje neurons from developing rats

(2011) Paula A. Zamudio-Bulcock et al.   JOURNAL OF NEUROCHEMISTRY

TRPM3 Is a Nociceptor Channel Involved in the Detection of Noxious Heat

(2011) Joris Vriens et al.   NEURON

TRPM3 is expressed in sphingosine-responsive myelinating oligodendrocytes

(2010) Anja Hoffmann et al.   JOURNAL OF NEUROCHEMISTRY

Transient receptor potential M3 channels are ionotropic steroid receptors in pancreatic β cells

(2008) Thomas F.J. Wagner et al.   NATURE CELL BIOLOGY