Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy

1996 ◽  
Vol 97 (2) ◽  
pp. 194-197 ◽  
Author(s):  
Ernst W. Krasemann ◽  
V. Meier ◽  
G. C. Korenke ◽  
D. H. Hunneman ◽  
F. Hanefeld
Keyword(s):  
Ald Gene

De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene

1995 ◽  
Vol 95 (2) ◽  
Author(s):  
A. Barcel� ◽  
M. Gir�s ◽  
C.O. Sarde ◽  
G. Pintos ◽  
J.L. Mandel ◽  
...  
Keyword(s):  
Missense Mutation ◽  
De Novo ◽  
Exon 1 ◽  
Ald Gene

Duplication of the structural gene for the plastid-specific isozyme of aldolase in Cicer

Genome ◽  
1991 ◽  
Vol 34 (1) ◽  
pp. 151-155 ◽  
Author(s):  
P. M. Gaur ◽  
A. E. Slinkard
Keyword(s):  
Gene Duplication ◽  
Duplicate Genes ◽  
Fructose Bisphosphate ◽  
Cicer Arietinum L ◽  
True Breeding ◽  
Cicer Species ◽  
Fructose Bisphosphate Aldolase ◽  
Wild Cicer Species ◽  
Aldolase Gene ◽  
Ald Gene

Fructose-bisphosphate aldolase (ALD, EC 4.1.2.13) was analysed in Cicer arietinum L. (the cultivated chickpea) and all eight annual wild Cicer species, C. bijugum Rech., C. chorassanicum (Bge.) M. Pop., C. cuneatum Rich., C. echinospermum Davis, C. judaicum Boiss., C. pinnatifidum J. &S., C. reticulatum Lad., and C. yamashitae Kit. Duplicate genes were identified for the plastid-specific isozyme of ALD in C. arietinum and all wild species except C. yamashitae and one accession of C. reticulatum. Gene duplication was indicated by the presence of a true-breeding five-banded zymotype of the tetrameric plastid ALD in these species. Monogenic inheritance was confirmed for the alleles of one of the loci. The occurrence of ALD gene duplication in most of the annual Cicer species suggests that this duplication is of ancient origin. However, this duplication must have occurred after divergence of Cicer from the closely related genera Pisum and Lens because the plastid ALD is controlled monogenically in these latter two genera.Key words: Cicer, isozymes, aldolase, gene duplication.

scholarly journals A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy

1994 ◽  
Vol 39 (3) ◽  
pp. 345-351 ◽  
Author(s):  
Tadashi Matsumoto ◽  
Tatsuro Kondoh ◽  
Hideaki Masuzaki ◽  
Naoki Harada ◽  
Tetsuo Matsusaka ◽  
...  
Keyword(s):  
Point Mutation ◽  
Atp Binding ◽  
Binding Region ◽  
Ald Gene

Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings

1997 ◽  
pp. 40-47 ◽  
Author(s):  
GC Korenke ◽  
C Roth ◽  
E Krasemann ◽  
M Hufner ◽  
DH Hunneman ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Molecular Genetic ◽  
Neurological Symptoms ◽  
Beta Oxidation ◽  
Peroxisomal Membrane ◽  
Molecular Genetic Data ◽  
Neurological Phenotype ◽  
Hereditary Factors ◽  
Endocrinological Symptoms ◽  
Ald Gene

X-linked adrenoleucodystrophy (ALD) has been shown to be one of the most frequent causes of Addison's disease in men. It is characterized by an impaired peroxisomal beta-oxidation of very long chain fatty acids and is associated with mutations of the ALD gene resulting in a defective peroxisomal membrane transport protein. There is a striking variability of endocrinological and neurological symptoms in patients with ALD, with no clearly evident correlation between mutations of the ALD gene and the different neurological phenotypes. No data on endocrinological symptoms and the ALD genotype have been published so far. We report endocrinological, clinical, laboratory and molecular genetic data from 55 patients with ALD from 34 families. Endocrinological symptoms of adrenal insufficiency were observed in 33 patients, 20 of whom showed additional neurological symptoms of cerebral ALD or adrenomyeloneuropathy. Isolated neurological symptoms were seen in 12 patients; in nine patients there were neither endocrinological nor neurological symptoms. Mutations of the ALD gene (n = 28) were detected in 50 patients (including nine sets of brothers) from 32 families. No correlation was found between the ALD gene mutation and endocrinological dysfunction. However, we found that all sets of brothers were concordant for the endocrinological phenotype (cortisol synthesis was reduced in two sets and normal in seven sets), whereas four sets showed a discordant neurological phenotype. As yet unknown hereditary factors other than mutations within the ALD gene may interfere with the endocrinological phenotype more strongly than with the neurological phenotype of ALD.

scholarly journals Regulation of the ald Gene Encoding Alanine Dehydrogenase by AldR in Mycobacterium smegmatis

2013 ◽  
Vol 195 (16) ◽  
pp. 3610-3620 ◽  
Author(s):  
J.-A. Jeong ◽  
E.-Y. Baek ◽  
S. W. Kim ◽  
J.-S. Choi ◽  
J.-I. Oh
Keyword(s):  
Mycobacterium Smegmatis ◽  
Gene Encoding ◽  
Alanine Dehydrogenase ◽  
Ald Gene

scholarly journals Detection of mutations in the ALD gene (ABCD1) in seven Italian families: Description of four novel mutations

2000 ◽  
Vol 16 (3) ◽  
pp. 271-271 ◽  
Author(s):  
M. Gomez Lira ◽  
M. Mottes ◽  
P.F. Pignatti ◽  
I. Medica ◽  
G. Uziel ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Detection Of Mutations ◽  
Ald Gene
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