Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons

Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis

(2019) Francesca De Giorgio et al.   Disease Models & Mechanisms

Ubiquitin C-terminal hydrolase L1 (UCH-L1) loss causes neurodegeneration by altering protein turnover in the first postnatal weeks

(2019) Anna T. Reinicke et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five

(2019) Mukhran Khundadze et al.   NEUROBIOLOGY OF DISEASE

Update on the Genetics of Spastic Paraplegias

(2019) Maxime Boutry et al.   Current Neurology and Neuroscience Reports

Mouse models of neurodegeneration: Know your question, know your mouse

(2019) Elizabeth M. C. Fisher et al.   Science Translational Medicine

Mouse models of ALS: Past, present and future

(2018) Cathleen Lutz   BRAIN RESEARCH

Converging cellular themes for the hereditary spastic paraplegias

(2018) Craig Blackstone   CURRENT OPINION IN NEUROBIOLOGY

Incorporating upper motor neuron health in ALS drug discovery

(2018) Ina Dervishi et al.   DRUG DISCOVERY TODAY

Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79

(2018) Aneek Das Bhowmik et al.   JOURNAL OF HUMAN GENETICS

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

(2018) Ruth Chia et al.   LANCET NEUROLOGY

The effect of manganese exposure in Atp13a2-deficient mice

(2018) Sheila M. Fleming et al.   NEUROTOXICOLOGY

UCH-L1 bypasses mTOR to promote protein biosynthesis and is required for MYC driven lymphomagenesis in mice

(2018) Sajjad Hussain et al.   BLOOD

Protein-protein interactions reveal key canonical pathways, upstream regulators, interactome domains, and novel targets in ALS

(2018) Ina Dervishi et al.   Scientific Reports

Mitochondria, ER, and nuclear membrane defects reveal early mechanisms for upper motor neuron vulnerability with respect to TDP-43 pathology

(2018) Mukesh Gautam et al.   ACTA NEUROPATHOLOGICA

Hereditary Spastic Paraplegia: gain-of-function mechanisms revealed by new transgenic mouse

(2018) Liang Qiang et al.   HUMAN MOLECULAR GENETICS

All (animal) models (of neurodegeneration) are wrong. Are they also useful?

(2018) Richard M. Ransohoff   JOURNAL OF EXPERIMENTAL MEDICINE

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

(2018) Dana M. Bis-Brewer et al.   Frontiers in Neurology

Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2

(2017) Katja A. Lüders et al.   GLIA

Novel UCHL1 mutations reveal new insights into ubiquitin processing

(2017) Siri L. Rydning et al.   HUMAN MOLECULAR GENETICS

Changes in the Excitability of Neocortical Neurons in a Mouse Model of Amyotrophic Lateral Sclerosis Are Not Specific to Corticospinal Neurons and Are Modulated by Advancing Disease

(2017) Juhyun Kim et al.   JOURNAL OF NEUROSCIENCE

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

(2017) Julien Branchu et al.   NEUROBIOLOGY OF DISEASE

Mouse models of frontotemporal dementia: A comparison of phenotypes with clinical symptomatology

(2017) Rebekah M. Ahmed et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia

(2017) Ranjan Batra et al.   Frontiers in Cellular Neuroscience

Genetics of Amyotrophic Lateral Sclerosis

(2017) Mehdi Ghasemi et al.   Cold Spring Harbor Perspectives in Medicine

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

(2016) Ziv Gan-Or et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lysosomal Storage of Subunit c of Mitochondrial ATP Synthase in Brain-Specific Atp13a2-Deficient Mice

(2016) Shigeto Sato et al.   AMERICAN JOURNAL OF PATHOLOGY

Ubiquitin C-terminal hydrolase L1 (UCH-L1): structure, distribution and roles in brain function and dysfunction

(2016) P. Bishop et al.   BIOCHEMICAL JOURNAL

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

(2016) Eleanna Kara et al.   BRAIN

Atp13a2Deficiency Aggravates Astrocyte-Mediated Neuroinflammation via NLRP3 Inflammasome Activation

(2016) Chen Qiao et al.   CNS Neuroscience & Therapeutics

S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model

(2016) Pingting Liu et al.   Disease Models & Mechanisms

Healthy and diseased corticospinal motor neurons are selectively transduced upon direct AAV2-2 injection into the motor cortex

(2016) J H Jara et al.   GENE THERAPY

Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms

(2016) Mukesh Gautam et al.   HUMAN MOLECULAR GENETICS

Reep1null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation

(2016) Benoît Renvoisé et al.   HUMAN MOLECULAR GENETICS

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Pathophysiological and diagnostic implications of cortical dysfunction in ALS

(2016) Nimeshan Geevasinga et al.   Nature Reviews Neurology

Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin

(2016) James W. Connell et al.   PLoS One

Carnitine palmitoyltransferase 1C: From cognition to cancer

(2016) Núria Casals et al.   PROGRESS IN LIPID RESEARCH

VCP and ATL1 regulate endoplasmic reticulum and protein synthesis for dendritic spine formation

(2016) Yu-Tzu Shih et al.   Nature Communications

Ctip1 Regulates the Balance between Specification of Distinct Projection Neuron Subtypes in Deep Cortical Layers

(2016) Mollie B. Woodworth et al.   Cell Reports

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

(2016) Yubin Wang et al.   Cell Reports

Absence of UCHL 1 function leads to selective motor neuropathy

(2016) Barış Genç et al.   Annals of Clinical and Translational Neurology

From animal models to human disease: a genetic approach for personalized medicine in ALS

(2016) Vincent Picher-Martel et al.   Acta Neuropathologica Communications

Mutations inFARS2and non-fatal mitochondrial dysfunction in two siblings

(2015) Hilary J Vernon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts

(2015) Youngshin Lim et al.   ANNALS OF NEUROLOGY

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)

(2015) Saki Sultana et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder

(2015) Alexander Lossos et al.   BRAIN

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

(2015) Marie Coutelier et al.   BRAIN

Corticospinal Motor Neurons Are Susceptible to Increased ER Stress and Display Profound Degeneration in the Absence of UCHL1 Function

(2015) Javier H. Jara et al.   CEREBRAL CORTEX

A Newly Identified Missense Mutation inFARS2Causes Autosomal-Recessive Spastic Paraplegia

(2015) Ying Yang et al.   HUMAN MUTATION

Fezf2expression in layer 5 projection neurons of mature mouse motor cortex

(2015) Malinda L.S. Tantirigama et al.   JOURNAL OF COMPARATIVE NEUROLOGY

 -Synuclein-Independent Histopathological and Motor Deficits in Mice Lacking the Endolysosomal Parkinsonism Protein Atp13a2

(2015) L. R. Kett et al.   JOURNAL OF NEUROSCIENCE

Comprehensive Corticospinal Labeling with mu-crystallin Transgene Reveals Axon Regeneration after Spinal Cord Trauma in ngr1-/- Mice

(2015) K. L. Fink et al.   JOURNAL OF NEUROSCIENCE

FTD and ALS—translating mouse studies into clinical trials

(2015) Lars M. Ittner et al.   Nature Reviews Neurology

Current and Novel Aspects on the Non-lysosomal β-Glucosylceramidase GBA2

(2015) Aureli Massimo et al.   NEUROCHEMICAL RESEARCH

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

(2015) A. Lossos et al.   NEUROLOGY

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

(2015) Amir Jahic et al.   Orphanet Journal of Rare Diseases

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

(2015) Rita-Eva Varga et al.   PLoS Genetics

Mutation inCPT1CAssociated With Pure Autosomal Dominant Spastic Paraplegia

(2015) Carlo Rinaldi et al.   JAMA Neurology

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

(2014) Typhaine Esteves et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Role of calpain-1 in the early phase of experimental ALS

(2014) R. Stifanese et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Satb2 Regulates the Differentiation of Both Callosal and Subcerebral Projection Neurons in the Developing Cerebral Cortex

(2014) Dino P. Leone et al.   CEREBRAL CORTEX

Lack of seipin in neurons results in anxiety- and depression-like behaviors via down regulation of PPARγ

(2014) Libin Zhou et al.   HUMAN MOLECULAR GENETICS

Phosphatidic Acid (PA)-preferring Phospholipase A1Regulates Mitochondrial Dynamics

(2014) Takashi Baba et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ATP13A2/PARK9 Regulates Secretion of Exosomes and  -Synuclein

(2014) T. Tsunemi et al.   JOURNAL OF NEUROSCIENCE

A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice

(2014) Joan Helmering et al.   Lipids in Health and Disease

ALS—dying forward, backward or outward?

(2014) Mark R. Baker   Nature Reviews Neurology

The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase

(2014) J. M. Inloes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Retrograde labeling, transduction, and genetic targeting allow cellular analysis of corticospinal motor neurons: implications in health and disease

(2014) Javier H. Jara et al.   Frontiers in Neuroanatomy

Loss of UCHL1 promotes age-related degenerative changes in the enteric nervous system

(2014) Josée Coulombe et al.   Frontiers in Aging Neuroscience

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity

(2013) Patricia Carrasco et al.   BEHAVIOURAL BRAIN RESEARCH

AMP deaminase 3 plays a critical role in remote reperfusion lung injury

(2013) Peili Li et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

(2013) Naiara Akizu et al.   CELL

Could Dysregulation of UPS be a Common Underlying Mechanism for Cancer and Neurodegeneration? Lessons from UCHL1

(2013) Javier H. Jara et al.   CELL BIOCHEMISTRY AND BIOPHYSICS

Molecular Chaperone Disorders: Defective Hsp60 in Neurodegeneration

(2013) Peter Bross et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Moving forward in clinical trials for ALS: motor neurons lead the way please

(2013) Barış Genç et al.   DRUG DISCOVERY TODAY

Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits

(2013) Patrick J. Schultheis et al.   HUMAN MOLECULAR GENETICS

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

(2013) Christian Beetz et al.   JOURNAL OF CLINICAL INVESTIGATION

REEPing the benefits of an animal model of hereditary spastic paraplegia

(2013) Ariel Y. Deutch et al.   JOURNAL OF CLINICAL INVESTIGATION

Accelerated axon loss in MOG35-55 experimental autoimmune encephalomyelitis (EAE) in myelin-associated glycoprotein-deficient (MAGKO) mice

(2013) Melina V. Jones et al.   JOURNAL OF NEUROIMMUNOLOGY

Pathogenesis of Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) Revealed by a Rat Model

(2013) Fumihiro Watanabe et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

eGFP Expression under UCHL1 Promoter Genetically Labels Corticospinal Motor Neurons and a Subpopulation of Degeneration-Resistant Spinal Motor Neurons in an ALS Mouse Model

(2013) M. V. Yasvoina et al.   JOURNAL OF NEUROSCIENCE

Of men, not mice

(2013)   NATURE MEDICINE

Corticostriatal connectivity and its role in disease

(2013) Gordon M. G. Shepherd   NATURE REVIEWS NEUROSCIENCE

Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice

(2013) Raffaella Magnoni et al.   NEUROBIOLOGY OF DISEASE

GENSAT BAC Cre-Recombinase Driver Lines to Study the Functional Organization of Cerebral Cortical and Basal Ganglia Circuits

(2013) Charles R. Gerfen et al.   NEURON

Atlastin-1 regulates dendritic morphogenesis in mouse cerebral cortex

(2013) Ying Gao et al.   NEUROSCIENCE RESEARCH

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

(2013) Kaya Bilguvar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

(2013) C. Beetz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Motor neuron degeneration in a mouse model of seipinopathy

(2013) J Guo et al.   Cell Death & Disease

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

(2013) Mukhran Khundadze et al.   PLoS Genetics

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

(2012) Danit Oz-Levi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice

(2012) C. Fassier et al.   Disease Models & Mechanisms

Spg20−/− mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling

(2012) Benoît Renvoisé et al.   HUMAN MOLECULAR GENETICS

A homozygous mutation ofC12orf65causes spastic paraplegia with optic atrophy and neuropathy (SPG55)

(2012) Haruo Shimazaki et al.   JOURNAL OF MEDICAL GENETICS

Deficiency of ATP13A2 Leads to Lysosomal Dysfunction,  -Synuclein Accumulation, and Neurotoxicity

(2012) M. Usenovic et al.   JOURNAL OF NEUROSCIENCE

Calpain 1 Knockdown Improves Tissue Sparing and Functional Outcomes after Spinal Cord Injury in Rats

(2012) Chen Guang Yu et al.   JOURNAL OF NEUROTRAUMA

Corticospinal reorganization after spinal cord injury

(2012) Martin Oudega et al.   JOURNAL OF PHYSIOLOGY-LONDON

AAV2 mediated retrograde transduction of corticospinal motor neurons reveals initial and selective apical dendrite degeneration in ALS

(2012) Javier H. Jara et al.   NEUROBIOLOGY OF DISEASE

Axonal transport deficit in a KIF5A –/– mouse model

(2012) Kathrin N. Karle et al.   NEUROGENETICS

Motor Protein KIF1A Is Essential for Hippocampal Synaptogenesis and Learning Enhancement in an Enriched Environment

(2012) Makoto Kondo et al.   NEURON

Myelination in the absence of UDP-galactose:ceramide galactosyl-transferase and fatty acid 2 -hydroxylase

(2011) Marion Meixner et al.   BMC NEUROSCIENCE

LPA-producing enzyme PA-PLA1α regulates hair follicle development by modulating EGFR signalling

(2011) Asuka Inoue et al.   EMBO JOURNAL

Central nervous system dysfunction in a mouse model of Fa2h deficiency

(2011) Kathleen A. Potter et al.   GLIA

N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress

(2011) Takuya Yagi et al.   HUMAN MOLECULAR GENETICS

Seipin ablation in mice results in severe generalized lipodystrophy

(2011) X. Cui et al.   HUMAN MOLECULAR GENETICS

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

(2011) Yeşerin Yıldırım et al.   HUMAN MOLECULAR GENETICS

Myelin-associated glycoprotein protects neurons from excitotoxicity

(2011) Pablo H. H. Lopez et al.   JOURNAL OF NEUROCHEMISTRY

Corticospinal Motor Neurons and Related Subcerebral Projection Neurons Undergo Early and Specific Neurodegeneration in hSOD1G93A Transgenic ALS Mice

(2011) P. H. Ozdinler et al.   JOURNAL OF NEUROSCIENCE

A new locus (SPG47) maps to 1p13.2–1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

(2011) Lubov Blumkin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

ATP13A2 regulates mitochondrial bioenergetics through macroautophagy

(2011) Aaron M. Gusdon et al.   NEUROBIOLOGY OF DISEASE

Pathologic and Phenotypic Alterations in a Mouse Expressing a Connexin47 Missense Mutation That Causes Pelizaeus-Merzbacher–Like Disease in Humans

(2011) Oliver Tress et al.   PLoS Genetics

Motor Neuron Diversity in Development and Disease

(2010) Kevin C. Kanning et al.   Annual Review of Neuroscience

Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice

(2010) Jane H. Christensen et al.   CELL STRESS & CHAPERONES

MAG and OMgp Synergize with Nogo-A to Restrict Axonal Growth and Neurological Recovery after Spinal Cord Trauma

(2010) W. B. J. Cafferty et al.   JOURNAL OF NEUROSCIENCE

The de-ubiquitinase UCH-L1 is an oncogene that drives the development of lymphoma in vivo by deregulating PHLPP1 and Akt signaling

(2010) S Hussain et al.   LEUKEMIA

Hereditary spastic paraplegias: membrane traffic and the motor pathway

(2010) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons

(2010) Cynthia Soderblom et al.   NEUROGENETICS

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum

(2010) Amir Boukhris et al.   NEUROGENETICS

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused bySLC33A1mutation in a Chinese kindred

(2010) Pengfei Lin et al.   PRENATAL DIAGNOSIS

Ubiquitin carboxyl-terminal hydrolase L1 is required for maintaining the structure and function of the neuromuscular junction

(2010) F. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

(2010) Mikołaj Słabicki et al.   PLOS BIOLOGY

Ablation of adhesion molecule L1 in mice favours Schwann cell proliferation and functional recovery after peripheral nerve injury

(2009) Daria Guseva et al.   BRAIN

Functional Role of Neuroendocrine-Specific Protein-Like 1 in Membrane Translocation of GLUT4

(2009) Takaaki Ikemoto et al.   DIABETES

Astrocytic protection of spinal motor neurons but not cortical neurons against loss of Als2/alsin function

(2009) A. Jacquier et al.   HUMAN MOLECULAR GENETICS

Genetic interaction between the m -AAA protease isoenzymes reveals novel roles in cerebellar degeneration

(2009) Paola Martinelli et al.   HUMAN MOLECULAR GENETICS

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

(2009) Paul R. Kasher et al.   JOURNAL OF NEUROCHEMISTRY

Regulation of Synaptic Structure by Ubiquitin C-Terminal Hydrolase L1

(2009) A. E. Cartier et al.   JOURNAL OF NEUROSCIENCE

Corticospinal neurons respond differentially to neurotrophins and myelin-associated glycoprotein in vitro

(2009) Miranda W. Richter et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Axonal and neuromuscular synaptic phenotypes in WldS, SOD1G93A and ostes mutant mice identified by fiber-optic confocal microendoscopy

(2009) Frances Wong et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice

(2009) Alexis Tapanes-Castillo et al.   NEUROGENETICS

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1

(2009) Umut Dursun et al.   NEUROGENETICS

CD39 deletion exacerbates experimental murine colitis and human polymorphisms increase susceptibility to inflammatory bowel disease

(2009) D. J. Friedman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

UCHL1 (PGP 9.5): Neuronal biomarker and ubiquitin system protein

(2009) Ian N.M. Day et al.   PROGRESS IN NEUROBIOLOGY

Local-circuit phenotypes of layer 5 neurons in motor-frontal cortex of YFP-H mice

(2009) Jianing Yu   Frontiers in Neural Circuits

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

(2008) Maria K. Tsaousidou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)

(2008) Pengfei Lin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

(2008) Shirley Rainier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Descending Pathways in Motor Control

(2008) Roger N. Lemon   Annual Review of Neuroscience

A Locus for Primary Lateral Sclerosis on Chromosome 4ptel-4p16.1

(2008) Paul N. Valdmanis et al.   ARCHIVES OF NEUROLOGY

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

(2008) Jennifer L. Orthmann-Murphy et al.   BRAIN

Deletion of Cd39/Entpd1 Results in Hepatic Insulin Resistance

(2008) K. Enjyoji et al.   DIABETES

Absence of 2-Hydroxylated Sphingolipids Is Compatible with Normal Neural Development But Causes Late-Onset Axon and Myelin Sheath Degeneration

(2008) I. Zoller et al.   JOURNAL OF NEUROSCIENCE

Differential effects of Usp14 and Uch-L1 on the ubiquitin proteasome system and synaptic activity

(2008) B.J. Walters et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Hepatic insulin resistance directly promotes formation of cholesterol gallstones

(2008) Sudha B Biddinger et al.   NATURE MEDICINE

Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)

(2008) Thilo Herzfeld et al.   NEUROGENETICS

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23

(2008) K. J. Dick et al.   NEUROLOGY

Accumulation of AMPA Receptors in Autophagosomes in Neuronal Axons Lacking Adaptor Protein AP-4

(2008) Shinji Matsuda et al.   NEURON