Volume 48, Issue 6, Pages (December 2005)

Slides:

Advertisements

Similar presentations

The Neurobiology of Decision: Consensus and Controversy Joseph W. Kable, Paul W. Glimcher Neuron Volume 63, Issue 6, Pages (September 2009) DOI:

Advertisements

Treating the Developing versus Developed Brain: Translating Preclinical Mouse and Human Studies B.J. Casey, Charles E. Glatt, Francis S. Lee Neuron Volume.

Spinal Muscular Atrophy SMN1 Billy Baader - Genetics 677 Medline Plus (2009) Spinal Muscular Atrophy retrieved Feb 3, 2009 from:

Preference Distributions of Primary Motor Cortex Neurons Reflect Control Solutions Optimized for Limb Biomechanics Timothy P. Lillicrap, Stephen H. Scott.

The Pathobiology of Vascular Dementia Costantino Iadecola Neuron Volume 80, Issue 4, Pages (November 2013) DOI: /j.neuron Copyright.

Decision Making as a Window on Cognition Michael N. Shadlen, Roozbeh Kiani Neuron Volume 80, Issue 3, Pages (October 2013) DOI: /j.neuron

Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy Constanza.

Neuronal Cell Types and Connectivity: Lessons from the Retina H. Sebastian Seung, Uygar Sümbül Neuron Volume 83, Issue 6, Pages (September 2014)

Normal Movement Selectivity in Autism Ilan Dinstein, Cibu Thomas, Kate Humphreys, Nancy Minshew, Marlene Behrmann, David J. Heeger Neuron Volume 66, Issue.

Molecular Motors in Neurons: Transport Mechanisms and Roles in Brain Function, Development, and Disease Nobutaka Hirokawa, Shinsuke Niwa, Yosuke Tanaka.

Spinal Cord Stimulation Alleviates Motor Deficits in a Primate Model of Parkinson Disease Maxwell B. Santana, Pär Halje, Hougelle Simplício, Ulrike Richter,

Pyramidal Neurons Grow Up and Change Their Mind Gord Fishell, Carina Hanashima Neuron Volume 57, Issue 3, Pages (February 2008) DOI: /j.neuron

Mechanisms of Age-Related Macular Degeneration Jayakrishna Ambati, Benjamin J. Fowler Neuron Volume 75, Issue 1, Pages (July 2012) DOI: /j.neuron

Adaptation to Natural Binocular Disparities in Primate V1 Explained by a Generalized Energy Model Ralf M. Haefner, Bruce G. Cumming Neuron Volume 57, Issue.

Reading the Book of Memory: Sparse Sampling versus Dense Mapping of Connectomes H. Sebastian Seung Neuron Volume 62, Issue 1, Pages (April 2009)

Genetic strategies used to create a mouse model of SMA

Building Better Models of Visual Cortical Receptive Fields

Microtubule Stability in the Axon: New Answers to an Old Mystery

Is Good Housekeeping the Key to Motor Neuron Survival?

A Circuit Mechanism for Neurodegeneration

Kelly Howell, Oliver Hobert Neuron

Axonal Transport: Cargo-Specific Mechanisms of Motility and Regulation

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy Yu-jin Qu, Jin-li Bai, Yan-yan.

Volume 13, Issue 1, Pages 5-6 (January 2011)

Michele Curcio, Frank Bradke Neuron

Linking Protein and RNA Function within the Same Gene

Volume 22, Issue 8, Pages (August 2014)

Searching for Signatures of Brain Maturity: What Are We Searching For?

Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype.

Daichi Inoue, Omar Abdel-Wahab Cancer Cell

Bifunctional RNAs Targeting the Intronic Splicing Silencer N1 Increase SMN Levels and Reduce Disease Severity in an Animal Model of Spinal Muscular Atrophy

Volume 13, Issue 1, Pages 5-6 (January 2011)

Volume 73, Issue 1, Pages 1-3 (January 2012)

Molecular Therapy - Methods & Clinical Development

Huntington's Disease: Can Mice Lead the Way to Treatment?

RNA and Disease Thomas A. Cooper, Lili Wan, Gideon Dreyfuss Cell

D'oh! Genes and Environment Cause Crohn's Disease

Nicholas J. Kramer, Aaron D. Gitler Neuron

Modeling Autism by SHANK Gene Mutations in Mice

Michele Curcio, Frank Bradke Neuron

Chemical Genetic Screening Approaches to Neurobiology

Nob Mice Wave Goodbye to Eye-Specific Segregation

Molecular Therapy - Nucleic Acids

Chemical Genetics and Orphan Genetic Diseases

Volume 54, Issue 2, Pages (April 2007)

Immune Proteins in Brain Development and Synaptic Plasticity

Philippe Burlet, Ph. D. , Nelly Frydman, D. Pharm. , Nadine Gigarel, B

Phytochromes: Where to Start?

Searching for Signatures of Brain Maturity: What Are We Searching For?

Tauomics and Kinetics in Human Neurons and Biological Fluids

Volume 4, Issue 4, Pages (April 2015)

Eukaryotic Stress Granules: The Ins and Outs of Translation

Crossing the Exon Molecular Cell

Alternative Splicing: New Insights from Global Analyses

FARP1 Promotes the Dendritic Growth of Spinal Motor Neuron Subtypes through Transmembrane Semaphorin6A and PlexinA4 Signaling BinQuan Zhuang, YouRong.

Augmenting the SMN Protein to Treat Infantile Spinal Muscular Atrophy

MicroRNA-155 Function in B Cells

Duchenne Muscular Dystrophy Models Show Their Age

Nat. Rev. Neurol. doi: /nrneurol

SMN1 and SMN2 contribute to spinal muscular atrophy (SMA).

Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy Jian Zeng, Yanhong Lin, Aizhen Yan, Longfeng Ke, Zhongyong Zhu, Fenghua Lan

Volume 127, Issue 4, Pages (November 2006)

Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN.

Figure 1 ASO functions ASO functions Target mRNA fates depending on ASO mechanism of action that is determined by where the ASO is targeted and by ASO.

Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype.

Pneumococcus Adapts to the Sickle Cell Host

David Hubel and Torsten Wiesel

Medial Prefrontal Cortex Updates Its Status

Molecular Therapy - Methods & Clinical Development

Volume 18, Issue 6, Pages (June 2010)

Presentation transcript:

Volume 48, Issue 6, Pages 885-895 (December 2005) Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease Umrao R. Monani Neuron Volume 48, Issue 6, Pages 885-895 (December 2005) DOI: 10.1016/j.neuron.2005.12.001 Copyright © 2005 Elsevier Inc. Terms and Conditions

Figure 1 The Molecular Basis of Proximal Spinal Muscular Atrophy Depicting the Two Major Genes Involved in the Disease, SMN1, and the Modifier, SMN2 All SMA patients are either homozygously deleted for or contain point mutations in SMN1 but always retain at least one copy of the SMN2 gene. For simplicity, the genes are depicted in tandem repeat, although they can exist in a head-to-head or tail-to-tail configuration. Copy number of the genes can vary considerably in the population from 1 through 6. ESE, exonic splicing enhancer; ESS, exonic splicing silencer; FL-SMN, full-length SMN; yellow box in exon 7 denotes putative ESE/ESS. Neuron 2005 48, 885-895DOI: (10.1016/j.neuron.2005.12.001) Copyright © 2005 Elsevier Inc. Terms and Conditions

Figure 2 A chick cortical neuron stained with an antibody against SMN showing abundant nucleocytoplasmic staining as well as the presence of granules (arrows) within neurites and the growth cone. The granules, RNP particles, are found associated with microtubules, indicating movement along the axon, and supports the idea of a motor neuron specific function of the SMN protein (also see Zhang et al., 2003) Neuron 2005 48, 885-895DOI: (10.1016/j.neuron.2005.12.001) Copyright © 2005 Elsevier Inc. Terms and Conditions

Figure 3 Motor Neuron Loss in Type III SMA Mice (A) Cresyl-echt violet section of lumbar spinal motor neurons (arrows) in a 3-month-old type III SMA mouse and its normal littermate, showing reduced cells in the former. (B) Quantification of lumbar spinal motor neurons and motor neurons of the facial nucleus in SMA III and normal mice (n = 3 in each case). Neuron 2005 48, 885-895DOI: (10.1016/j.neuron.2005.12.001) Copyright © 2005 Elsevier Inc. Terms and Conditions