The family of glycogen phosphorylases: structure and functio

CB Newgard, PK Hwang… - Critical reviews in …, 1989 - Taylor & Francis
Glycogen phosphorylase (1, 4 aD-glucan: orthophosphate aD-glucosyltransferase, EC 2.4.
1.1) isozymes play a central role in the mobilization of carbohydrate reserves in a wide …

McArdle disease: what do neurologists need to know?

A Lucia, G Nogales-Gadea, M Pérez… - Nature clinical practice …, 2008 - nature.com
McArdle disease (also known as glycogen storage disease type V) is a pure myopathy
caused by an inherited deficit of myophosphorylase, the skeletal muscle isoform of the …

Primary structure and expression of a functional human glucocorticoid receptor cDNA

SM Hollenberg, C Weinberger, ES Ong, G Cerelli… - Nature, 1985 - nature.com
Identification of complementary DNAs encoding the human glucocorticoid receptor predicts
two protein forms, of 777 (α) and 742 (β) amino acids, which differ at their carboxy termini …

[图书][B] Mendelian inheritance in man: a catalog of human genes and genetic disorders

VA McKusick - 1998 - books.google.com
The twelfth edition of this classic reference work includes:-More than 2,000 new entries-A
total of more than 9,000 entries-New features and enhancement of the familiar old features …

The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling

Y Ebina, L Ellis, K Jarnagin, M Edery, L Graf, E Clauser… - Cell, 1985 - cell.com
A cloned-5 kb cDNA (human placenta) contains the coding sequences for the insulin
receptor. The nucleotide sequence predicts a 1382 amino acid precursor. The (I subunit …

Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma

C Larsson, B Skogseid, K Öberg, Y Nakamura… - Nature, 1988 - nature.com
Multiple endocrine neoplasia type 1 (MEN-1) is a predisposition to hyperplasia of the
parathyroid glands, and to hyperplasia or tumours of the anterior pituitary and the endocrine …

The c-erb-A gene encodes a thyroid hormone receptor

C Weinberger, CC Thompson, ES Ong, R Lebo… - Nature, 1986 - nature.com
The c-erb-A gene encodes a thyroid hormone receptor Page 1 NATURE VOL. 324 18/25
DECEMBER 1986 ARTICLES– ––- - - -- ––-– “* The c-erb-A gene encodes a thyroid hormone …

Cytogenetic analysis by chromosome painting using DOP‐PCR amplified flow‐sorted chromosomes

HÅK Telenius, BAJ Ponder… - Genes …, 1992 - Wiley Online Library
A novel polymerase chain reaction (PCR) technique has been combined with chromosome
flow sorting to characterise two lymphoblastoid cell lines and one medullary thyroid …

The effect of oral sucrose on exercise tolerance in patients with McArdle's disease

J Vissing, RG Haller - New England Journal of Medicine, 2003 - Mass Medical Soc
Background Energy metabolism in muscles relies predominantly on the breakdown of
glycogen early in exercise. In patients with McArdle's disease, blocked glycogenolysis in …

Identification of a novel thyroid hormone receptor expressed in the mammalian central nervous system

CC Thompson, C Weinberger, R Lebo, RM Evans - Science, 1987 - science.org
A complementary DNA clone derived from rat brain messenger RNA has been isolated on
the basis of homology to the human thyroid hormone receptor gene. Expression of this …