Browse Results What Format Should I Choose?

Showing 1 through 2 of 2 results

Mitochondrial Disorders

by Lee-Jun C. Wong

Due to the complexity of the mitochondrial system and the myriad genes involved in their function, the clinical manifestations of mitochondrial diseases are remarkably variable and heterogeneous. The laboratory and clinical methodologies used to evaluate dysfunction may vary widely, and thusly a systematic presentation of the numerous protocols that are applied to the assessment of these clinically and genetically heterogeneous disorders has proven to be essential. Mitochondrial Disorders: Biochemical and Molecular Analysis strives to fill this need with a collection of key protocols provided by leading experts in the field. Beginning with overviews of complexity of mitochondrial and nuclear genome disorders, the book continues with a section devoted to current biochemical protocols and a part focused on the DNA-based approaches used to identify molecular defects. Written in the highly successful Methods in Molecular BiologyTM series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Detailed and authoritative, Mitochondrial Disorders: Biochemical and Molecular Analysis serves as a vital guide to researchers seeking to understand this incredibly complicated type of breakdown in cellular biology.

Mitochondrial Disorders Caused by Nuclear Genes

by Lee-Jun C. Wong

Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell, every tissue, mitochondrial disorder usually affects multiple organs.

Showing 1 through 2 of 2 results

Help

Select your format based upon: 1) how you want to read your book, and 2) compatibility with your reading tool. To learn more about using Bookshare with your device, visit the "Using Bookshare" page in the Help Center.

Here is an overview of the specialized formats that Bookshare offers its members with links that go to the Help Center for more information.

  • Bookshare Web Reader - a customized reading tool for Bookshare members offering all the features of DAISY with a single click of the "Read Now" link.
  • DAISY (Digital Accessible Information System) - a digital book file format. DAISY books from Bookshare are DAISY 3.0 text files that work with just about every type of access technology that reads text. Books that contain images will have the download option of ‘DAISY Text with Images’.
  • BRF (Braille Refreshable Format) - digital Braille for use with refreshable Braille devices and Braille embossers.
  • MP3 (Mpeg audio layer 3) - Provides audio only with no text. These books are created with a text-to-speech engine and spoken by Kendra, a high quality synthetic voice from Ivona. Any device that supports MP3 playback is compatible.
  • DAISY Audio - Similar to the Daisy 3.0 option above; however, this option uses MP3 files created with our text-to-speech engine that utilizes Ivona's Kendra voice. This format will work with Daisy Audio compatible players such as Victor Reader Stream and Read2Go.