Download spinal muscular atrophy in pdf or read spinal muscular atrophy in pdf online books in PDF, EPUB and Mobi Format. Click Download or Read Online button to get spinal muscular atrophy in pdf book now. This site is like a library, Use search box in the widget to get ebook that you want.



Spinal Muscular Atrophy

Author: Charlotte J Sumner
Publisher: Academic Press
ISBN: 0128036869
Size: 39.12 MB
Format: PDF, ePub
View: 5973
Download and Read
Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle atrophy, and is the leading genetic cause of infant mortality. Since the identification of the gene responsible for SMA in 1995, there have been important advances in the basic understanding of disease mechanisms, and in therapeutic development. This book provides a comprehensive accounting of recent advances in basic and clinical research that covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, and biomarkers, as well as current therapeutic development. This title is ideal for graduate students/postdocs and principal investigators who are already in the SMA field and need to keep updated on recent findings and approaches, and for those who are new to, or would like to join, the field. Likewise, users will find an excellent source of reading for biotech/pharma scientists, clinical researchers, and practitioners, regulators, and patients and their advocacy organizations. Furthermore, this book is a handy reference for researchers and clinicians who may want to apply the research strategies and therapeutic approaches in SMA to other rare diseases. Provides comprehensive, up-to-date reviews by leading investigators on diverse topics of SMA, including clinical features and patient care, SMN genetics and protein functions, animal models, disease pathology and mechanisms, biomarkers, current therapeutic development, and the role of non-profit organizations in therapeutic development Written to bridge multiple disciplines and promote better communications among basic scientists, clinical researchers, and health care providers on the latest developments in SMA Includes outstanding questions and perspectives for future investigations and key references for additional detailed study

Spinal Muscular Atrophy New Insights For The Healthcare Professional 2011 Edition

Author:
Publisher: ScholarlyEditions
ISBN: 1464913846
Size: 46.89 MB
Format: PDF, Kindle
View: 6432
Download and Read
Spinal Muscular Atrophy: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Spinal Muscular Atrophy in a compact format. The editors have built Spinal Muscular Atrophy: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Spinal Muscular Atrophy in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Spinal Muscular Atrophy: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

The Official Parent S Sourcebook On Spinal Muscular Atrophy

Author: Icon Health Publications
Publisher: Icon Group International Incorporated
ISBN: 9780597831218
Size: 34.29 MB
Format: PDF, ePub, Docs
View: 6680
Download and Read
This book has been created for parents who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells parents where and how to look for information covering virtually all topics related to spinal muscular atrophy (also Infantile Spinal Muscular Atrophy, Type I; Juvenile Spinal Muscular Atrophy Type III; SMA, Infantile Acute Form; Spinal Muscular Atrophy Type I; Spinal Muscular Atrophy Type III; Werdnig-Hoffman Paralysis), from the essentials to the most advanced.

It S One Of Them

Author: Grace Saunders
Publisher: AuthorHouse
ISBN: 1496997549
Size: 51.22 MB
Format: PDF, ePub
View: 4335
Download and Read
Grace Saunders and her brother Ben were both born with the genetic disorder spinal muscular atrophy type 2/3, SMA. From her happy childhood growing up in Hertfordshire, enduring painful operations, to becoming a mom and a wife living an independent life in Coventry. Her extraordinary story of strength, not only coping with a severe physical disability, but being victim to domestic violence. Grace’s story also involves drugs, murder, the police investigation that was Operation Ore and the death of her brother, aged thirty. This is a woman’s struggle for a normal life, independence, and remarkably, having a healthy baby girl when she was told she would never be able to have children. She coped many years, being a single mother with the help of her family and personal care assistants. She writes about her education, care, and funny stories about the world of Internet dating. She tells her story with, honesty, humor, and heartfelt emotion, Grace shares the highs and lows she has faced and has come out the other side, although a little bruised, stronger than ever, and still smiling. Grace’s attitude to the life she has been dealt with is, as she says, “It’s One of Them!”

Spinal Muscular Atrophy New Insights For The Healthcare Professional 2012 Edition

Author:
Publisher: ScholarlyEditions
ISBN: 1464979219
Size: 36.72 MB
Format: PDF, ePub
View: 1710
Download and Read
Spinal Muscular Atrophy: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Spinal Muscular Atrophy in a compact format. The editors have built Spinal Muscular Atrophy: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Spinal Muscular Atrophy in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Spinal Muscular Atrophy: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Companion To Clinical Neurology

Author: William Pryse-Phillips
Publisher: Oxford : Oxford University Press
ISBN: 0195159381
Size: 16.55 MB
Format: PDF, ePub
View: 4048
Download and Read
"Depicts or explains neurology's bygone leaders as well as its symptoms, signs, syndromes, diseases, eponyms, operative procedures, and diagnostic tests."--Foreword.

Spinal Muscular Atrophy In Drosophila And Mouse

Author: Erin Toaz
Publisher:
ISBN:
Size: 45.40 MB
Format: PDF, ePub, Mobi
View: 3698
Download and Read
Abstract: Spinal Muscular Atrophy (SMA) is a recessive genetic disorder that is characterized by selective loss of lower motor neurons and atrophy of muscle. It is the most common genetic cause of infant mortality and is caused by the loss of the SMN1 (Survival Motor Neuron) gene and retention of SMN2, which results in low levels of SMN protein. SMN functions in assembly of Sm proteins onto snRNAs and these RNPs function in splicing. Several mouse models have been developed to study the different types of SMA. Intermediate SMA mice (SMN2 +/+; Smn -/-; SMN[Delta]7 +/+) live an average of 14 days and express low levels of SMN protein. To investigate if expressing SMN in neurons would increase survival past 14 days, intermediate SMA mice were crossed to mice containing the ChAT-SMN transgene. ChAT-SMN expresses SMN in mature neurons. The results indicate increased expression of SMN in mature neurons does not increase survival of intermediate SMA mice past their normal lifespan. Additionally, we are creating a Drosophila model of SMA to study the effect of Smn missense mutations on survival. Drosophila has one Smn gene and loss of Smn protein is lethal at the larval stage. To investigate the effect of missense mutations on survival, we are introducing them into a Smn null background to see if survival is increased past the larval lethal stage. Patient mutations SMND44V and G279V (D20V and G210V in Drosophila) were chosen due to 100% identity of amino acids between human and fly and the type of SMA they cause in humans. D44V is a mild form of SMA (Type III) while G279V causes a severe form of SMA (Type I). Site-directed mutagenesis was performed to introduce the missense mutations into Drosophila Smn and the gene was subcloned into the pUAST vector. The plasmid will be injected in Drosophila embryos and the resulting flies crossed into the Smn null background. Three additional mutations, V94G, G95R, and Y130C (V72G, G73R, Y107C in Drosophila), were selected to study their effect on survival as well. Site-directed mutagenesis was performed on Drosophila Smn and the constructs remain to be subcloned and sequenced. Based on the results of these experiments, biochemical assays will be performed to determine the level of snRNP assembly in surviving flies to see if there is a relationship between levels of snRNP assembly and the type of SMA. Additionally, mutations that extend the flies past the larval stage will be chosen to create transgenic mice to see if they have a similar effect in mice.

Exploring Modifiers In Spinal Muscular Atrophy

Author: Jolill Ross
Publisher:
ISBN:
Size: 52.45 MB
Format: PDF, ePub
View: 5942
Download and Read
Spinal Muscular Atrophy (SMA) is the second most common autosomal recessive disorder. The rate of new occurring cases is 1 in 6,000, with a carrier frequency of 1 in 35. SMA is characterized by the loss of Survival Motor Neuron 1 (SMN1) gene, resulting in the degeneration of motor neurons located in the spinal cord, atrophy of muscles, paralysis, and eventually death. We utilize scAAV9, a viral vector, as a tool for introducing heterogeneous genes as a method for delivery. We and others have shown that delivery of full length SMN1 to the "delta 7" SMA mouse model fully rescues the disease. Therefore, we employ scAAV9 to introduce genes that are designed to modify the disease phenotype. Furthermore, we will investigate which domains of SMN are important for its function with scAAV9. SMNrp1 is a putative paralogue to SMN; the Tudor domain of SMNrp1 is highly similar to the Tudor domain of SMN. Both SMNrp1 and SMN are involved in spliceosome formation, therefore we hypothesized that SMNrp1 may be able to restore the function of SMN, making it a potential candidate as a modifier for SMA. Another example of a potential modifier of SMA is alpha-synuclein, which functions with synaptic vesicle recycling at the pre-synaptic membrane. Reduced alpha-synuclein protein and mRNA levels have been shown to correlate with reduced levels of SMN protein. Therefore, we hypothesized that alpha-synuclein may work with SMN to stabilize and protect motor neurons from SMA. Our results showed that SMNrp1 was unable to modify the SMA phenotype, while alpha-synuclein partially rescued the phenotype. In order to determine which functional domains within the SMN protein are particularly relevant for the development of SMA, we interrogated the ability of phylogentically diverse SMN proteins to ameliorate the SMA phenotype in mice. Phylogentically more distant species, such as Drosophila or S. pombe were hypothesized to be unable to restore SMN function, because of the reduced conservation of SMN protein domains. For this study, the severe SMN?7 mouse model was utilized. We found that Smn from C. elegans, Drosophila, and S. pombe were not able to rescue the phenotype of SMA mice. However zebrafish was able to rescue the phenotype and Xenopus partially rescued the phenotype of SMA mice. These studies will provide insight into the function of SMN as well as provide evidence for potential therapeutics for SMA.