Navigation Links
All genes in 1 go
Date:8/29/2010

the blood values of those affected. The raised level of the enzyme alkaline phosphatase, which usually plays a role in bone metabolism, can be measured in the blood. The researchers succeeded in showing that in the case of Mabry Syndrome the PIGV gene is mutated. PIGV codes, in turn, for an enzyme that is involved in the formation of the GPI anchor. This carbohydrate molecule binds proteins to the cell membrane. According to the scientists in Berlin, the gene for PIGV is mutated in such a way that the alkaline phosphatase is not adequately connected to the cell membrane. It separates from the membrane, accumulates in the blood, and thereby leads to an increase in blood levels. The researchers assume that PIGV in the brain is responsible for the anchoring of many other proteins and that this malfunction is responsible for the mental retardation associated with Mabry Syndrome.

Based on these results, the scientists will be able to carry out further research on the disease and develop new options for its treatment. The methods of genome analysis developed here enable the identification of mutations even in the case of extremely rare diseases and represent an important step forward in the direction of individualised molecular medicine.


'/>"/>

Contact: Patricia Marquardt
patricia.marquardt@molgen.mpg.de
49-308-413-1716
Max-Planck-Gesellschaft
Source:Eurekalert  

Page: 1 2

Related biology news :

1. Cactus genes connect modern Mexico to its prehistoric past
2. Scientist IDs genes that promise to make biofuel production more efficient, economical
3. Developmental problems: Some exist in the genes
4. Scientists reveal new targets for anti-angiogenesis drugs
5. Genes from sweet pepper to fortify African banana against devastating wilt disease
6. The taste of quinine: Its in your bitter genes
7. Important clue to understanding the pathogenesis of ciliary disorders
8. Disease genes that followed the Silk Road identified
9. Divide and conquer: Genes decide who wins in the bodys battle against cancer
10. What plant genes tell us about crop domestication
11. Maternal diet and genes interact to affect heart development
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
All genes in 1 go
(Date:10/15/2014)... The book ,Models of Life, is a non-traditional biophysics ... itself. The book is a journey of discovery into ... of life and biological regulation. It is about how ... strategic communication between the billions of cells in an ... the relationships between principles, which can be found on ...
(Date:10/15/2014)... bacterial pneumonia in female mice to an enzyme activated ... naturally more resistant to respiratory infections than males. Now, ... resistance to bacterial pneumonia in female mice is linked ... also show that this enzyme is ultimately activated by ... The team, lead by Professor Lester Kobzik at the ...
(Date:10/15/2014)...   Neurotechnology , a provider of high-precision ... the VeriLook Surveillance 3.0 software development kit ... face identification using live video streams from single ... version not only identifies faces in a crowd, ... they are moving through the video frame. It ...
Breaking Biology News(10 mins):New book about life as seen from physics 2VeriLook Surveillance 3.0 SDK Identifies Faces and Moving Objects, Differentiates Pedestrians from Other Moving Objects in Video Surveillance Systems 2VeriLook Surveillance 3.0 SDK Identifies Faces and Moving Objects, Differentiates Pedestrians from Other Moving Objects in Video Surveillance Systems 3
... tuna population? Can we compute how to transition ... Those and other questions will be tackled by ... scientists affiliated with Cornell University,s new Institute for ... grant from the National Science Foundation (NSF). This ...
... HARBOR, N.Y. (Sept. 4, 2008) A variety ... biological rhythms, where the timing and duration of fundamental ... adapt and survive, even under fluctuating environmental conditions. ... understand the molecular basis of these rhythms and how ...
... The CTRC-AACR San Antonio Breast Cancer Symposium features the ... cancer research. This year,s meeting focuses on new and ... in diagnosing and preventing breast cancer. To help ... abstracts and related activities, we encourage you to visit ...
Cached Biology News:Cornell gets $10 million NSF grant to establish new sustainability institute 2Interdisciplinary volume on biological rhythms serves as both primer and in-depth resource 2
(Date:10/20/2014)... , Oct. 20, 2014 /PRNewswire/ - BIOREM Inc. (TSXV: BRM) ... million which brings Q3 orders to $5.8 million and provides a ... projects in North America and one in ... to bid new projects at record levels," said Peter Bruijns ... higher at the end of Q3 than they have been for ...
(Date:10/20/2014)... PureTech , a science and ... problems, announced today the closing of a $55 ... Invesco Perpetual, a $120 Billion group of funds. ... existing pipeline forward and to advance new healthcare ... creativity to really go for the big ideas ...
(Date:10/20/2014)... 20, 2014 Local veterinary surgeon, Dr. ... investigational study of donor stem cells for dogs with ... therapy and has performed clinical stem cell therapy for ... to determine if a single injection of donor stem ... help reduce pain and inflammation in the treated joints. ...
(Date:10/19/2014)... NextCODE Health, which enables clinicians and researchers to use full ... the launch of its new genomic data analysis and collaboration ... of Human Genetics (ASHG) annual meeting in San ... for free beta access, visit www.nextcode.com . A brief ... here . The Exchange: , ...
Breaking Biology Technology:PureTech Announces Expansion with Oversubscribed $55M Funding Round 2PureTech Announces Expansion with Oversubscribed $55M Funding Round 3PureTech Announces Expansion with Oversubscribed $55M Funding Round 4PureTech Announces Expansion with Oversubscribed $55M Funding Round 5PureTech Announces Expansion with Oversubscribed $55M Funding Round 6Cascade Veterinary Referral Center Seeks Candidates for an Investigational Study of Stem Cells for Dogs with Arthritis 2The NextCODE Exchange: The first global, real-time system for sharing full-resolution genomic data 2The NextCODE Exchange: The first global, real-time system for sharing full-resolution genomic data 3
... good infrastructure has always been important to the economic ... The infrastructure has traditionally been viewed as transportation - ... and power (electricity). Today, the definition of infrastructure must ... broadband connectivity to compete globally. , ,Just as you ...
... project was, and we will often hear, Oh, about 11,000 ... How big was another 11,000-hour project that was canceled without ... only a little bitof software, but software that was extremely ... a measurable ounce of software, we're left with hand waving. ...
... breakthroughs to highlight, royalty, and the possibility record-setting attendance are ... , and perhaps no geographic region is more eager to ... is the news that Quincy Bioscience , a Madison-based ... of strokes. , ,The highlight of the conference's first day ...
Cached Biology Technology:States need to be more "connectivity conscious" 2States need to be more "connectivity conscious" 3States need to be more "connectivity conscious" 4Defining the X-factor: What is an ounce of software worth? 2Defining the X-factor: What is an ounce of software worth? 3Defining the X-factor: What is an ounce of software worth? 4BIO 2007: Wisconsin makes its presence felt 2BIO 2007: Wisconsin makes its presence felt 3BIO 2007: Wisconsin makes its presence felt 4
Rabbit polyclonal to SUR1 ( Abpromise for all tested applications). Antigen: Synthetic peptide Entrez Gene ID: 6833 Swiss Protein ID: Q09428...
...
CircuLex Anti-Human S100P Polyclonal Antibody Research Focus: proliferation Storage: -20C Shipping Temperature: 4C...
HAMP Immunogen: HAMP (AAH20612, 25 a.a. ~ 85 a.a) full length recombinant protein with GST tag. Storage: -20 C, Avoid Freeze/Thaw Cycles *Available for distribution in the US only...
Biology Products: