The HERC1 E3 Ubiquitin Ligase is essential for normal development and for neurotransmission at the mouse neuromuscular junction

Morphological and functional remodelling of the neuromuscular junction by skeletal muscle PGC-1α

(2014) Anne-Sophie Arnold et al.   Nature Communications

Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice

(2013) J. N. Sleigh et al.   HUMAN MOLECULAR GENETICS

Neurotransmitter release in motor nerve terminals of a mouse model of mild spinal muscular atrophy

(2013) Rocío Ruiz et al.   JOURNAL OF ANATOMY

A catalytic independent function of the deubiquitinating enzyme USP14 regulates hippocampal synaptic short-term plasticity and vesicle number

(2013) Brandon J. Walters et al.   JOURNAL OF PHYSIOLOGY-LONDON

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

(2013) Nomazulu Dlamini et al.   NEUROMUSCULAR DISORDERS

α-Synuclein A30P decreases neurodegeneration and increases synaptic vesicle release probability in CSPα-null mice

(2013) R. Ruiz et al.   NEUROPHARMACOLOGY

Impairment of spinal motor neurons in spinocerebellar ataxia type 1-knock-in mice

(2013) Yasuhiko Takechi et al.   NEUROSCIENCE LETTERS

Early Changes of Neuromuscular Transmission in the SOD1(G93A) Mice Model of ALS Start Long before Motor Symptoms Onset

(2013) Mariana C. Rocha et al.   PLoS One

Mutant ubiquitin decreases amyloid β plaque formation in a transgenic mouse model of Alzheimer’s disease

(2012) Paula van Tijn et al.   NEUROCHEMISTRY INTERNATIONAL

Altered neurotransmitter release machinery in mice deficient for the deubiquitinating enzyme Usp14

(2011) Bula J. Bhattacharyya et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Increased Neurotransmitter Release at the Neuromuscular Junction in a Mouse Model of Polyglutamine Disease

(2011) J. L. Rozas et al.   JOURNAL OF NEUROSCIENCE

Active Zones and the Readily Releasable Pool of Synaptic Vesicles at the Neuromuscular Junction of the Mouse

(2011) R. Ruiz et al.   JOURNAL OF NEUROSCIENCE

Ubiquitin Homeostasis Is Critical for Synaptic Development and Function

(2011) P.-C. Chen et al.   JOURNAL OF NEUROSCIENCE

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

The A-Current Modulates Learning via NMDA Receptors Containing the NR2B Subunit

(2011) Ángela Fontán-Lozano et al.   PLoS One

SMN Requirement for Synaptic Vesicle, Active Zone and Microtubule Postnatal Organization in Motor Nerve Terminals

(2011) Laura Torres-Benito et al.   PLoS One

Altered Intracellular Ca2+ Homeostasis in Nerve Terminals of Severe Spinal Muscular Atrophy Mice

(2010) R. Ruiz et al.   JOURNAL OF NEUROSCIENCE

Neonatal motor functions in Cacna1a-mutant rolling Nagoya mice

(2009) Eiki Takahashi et al.   BEHAVIOURAL BRAIN RESEARCH

Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy

(2009) Christian M. Simon et al.   HUMAN MOLECULAR GENETICS

Fbxo45, a Novel Ubiquitin Ligase, Regulates Synaptic Activity

(2009) Hirobumi Tada et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Proteasome-Associated Deubiquitinating Enzyme Usp14 Is Essential for the Maintenance of Synaptic Ubiquitin Levels and the Development of Neuromuscular Junctions

(2009) P.-C. Chen et al.   JOURNAL OF NEUROSCIENCE

Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice

(2009) L. Kong et al.   JOURNAL OF NEUROSCIENCE

Progressive Purkinje Cell Degeneration in tambaleante Mutant Mice Is a Consequence of a Missense Mutation in HERC1 E3 Ubiquitin Ligase

(2009) Tomoji Mashimo et al.   PLoS Genetics

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

(2008) Juliane Ramser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cysteine string protein- is essential for the high calcium sensitivity of exocytosis in a vertebrate synapse

(2008) R. Ruiz et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

The neuronal ubiquitin-proteasome system: Murine models and their neurological phenotype

(2008) Paula van Tijn et al.   PROGRESS IN NEUROBIOLOGY