Title : Carbonic anhydrase - related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice

نویسندگان

  • Yan Jiao
  • Jian Yan
  • Yu Zhao
  • Leah Rae Donahue
  • Wesley G. Beamer
  • Xinmin Li
  • Bruce A. Roe
  • Mark S. LeDoux
  • Weikuan Gu
چکیده

Departments of Orthopaedic SurgeryCampbell Clinic and Pathology, University of Tennessee Health Science Center, Memphis, Tennessee; Department of Biology, University of Memphis, Memphis, Tennessee; Departments of Neurology and Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee; The Jackson Laboratory, Bar Harbor, Maine; Functional Genomics Facility, University of Chicago, Chicago, Illinois; Department of Chemistry and Biochemistry, University of Oklahoma, Norman, Oklahoma

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice.

The waddles (wdl) mouse is a unique animal model that exhibits ataxia and appendicular dystonia without pathological abnormalities of either the central or the peripheral nervous systems. A 19-bp deletion in exon 8 of the carbonic anhydrase-related protein VIII gene (Car8) was detected by high-throughput temperature-gradient capillary electrophoresis heteroduplex analysis of PCR amplicons of ge...

متن کامل

Effect of long-term oral administration of extra thyroxine on oviductal expression of carbonic anhydrase and avidin-related protein-2 genes in broiler breeder hens

Avian sperm are stored in the sperm storage tubules (SSTs) of the hen oviduct for a prolonged period. The impact of avidin-related protein-2 (AVRP2) and carbonic anhydrase II (CA II) in sperm viability in the SSTs has been suggested. The aim of the present study was to investigate the effect of oral administration of a high dose of thyroxine on the oviductal expression of AVRP2<...

متن کامل

Carbonic anhydrase 2 deficiency leads to increased pyelonephritis susceptibility.

Carbonic anhydrase 2 regulates acid-base homeostasis, and recent findings have indicated a correlation between cellular control of acid-base status and the innate defense of the kidney. Mice deficient in carbonic anhydrase 2 (Car2(-/-) mice) have metabolic acidosis, impaired urine acidification, and are deficient in normal intercalated cells. The objective of the present study was to evaluate t...

متن کامل

Study of Glycation Process of Human Carbonic Anhydrase II and Investigation of Effect of Fasting On Enzyme Activity by Using Spectroscopic Methods

Background: Glycation is the non-enzymatic reaction between the carbonyl groups in sugar and free amino groups in proteins. this reaction leads to changes in structure and functions of proteins. Advanced glycation end products (AGEs) is the final stage in this process, which is highly oxidizing and destructive nature, causing many diabetic complications. Methods: In the present investigation, ...

متن کامل

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

We describe a consanguineous Iraqi family in which affected siblings had mild mental retardation and congenital ataxia characterized by quadrupedal gait. Genome-wide linkage analysis identified a 5.8 Mb interval on chromosome 8q with shared homozygosity among the affected persons. Sequencing of genes contained in the interval revealed a homozygous mutation, S100P, in carbonic anhydrase related ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2005