ABCMdb

PMID: 10980309

Ohi T, Takechi S, Itokazu N, Shiomi K, Sugimoto S, Antoku Y, Kato K, Sugimoto T, Nakayama T, Matsukura S
Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation.
J Neurol Sci. 2000 Aug 15;177(2):131-8., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCD1 p.Arg163Pro The first, G(874)C transition results in Arg(163)Pro substitution in the cytoplasmic domain of the ALD protein in adrenomyeloneuropathy family. Login to comment 2 ABCD1 p.Ser98Trp The second, C(679)G results in Ser(98)Trp substitution in the first transmembrane loop in childhood onset cerebral ALD family. Login to comment 54 ABCD1 p.Arg163Pro He had received 80 Arg(163)Pro also was detected in his daughter and mother. Login to comment 114 ABCD1 p.Ser98Trp Currently he ALD gene in this boy revealed a single nucleotide substitu- remains in chronic vegetative state and is being adminis- tion at position 679, replacing C with G and changing tered anticonvulsant medication through a gastric feeding serine to tryptophan at amino acid position 98 of the tube. Login to comment 116 ABCD1 p.Ser98Trp This mutation Ser(98)Trp was also present in his mother and younger brother. Login to comment 162 ABCD1 p.Arg163Pro cerebrum of ALD patients suggest that the first developing The site of the substitution Arg(163)Pro in the AMN event is of a non-inflammatory nature [30]. Login to comment 163 ABCD1 p.Arg163Pro cerebrum of ALD patients suggest that the first developing The site of the substitution Arg(163)Pro in the AMN event is of a non-inflammatory nature [30]. Login to comment 165 ABCD1 p.Arg163His ALDP is expressed in as- carrier was an Arg(163)His amino acid substitution [16], trocytes, microglial cells, and oligodendrocytes [31]. Login to comment 166 ABCD1 p.Arg163His ALDP is expressed in as- carrier was an Arg(163)His amino acid substitution [16], trocytes, microglial cells, and oligodendrocytes [31]. Login to comment 167 ABCD1 p.Ser98Trp The first event in the cerebrum of ALD patients could be mutation in the COCALD family was a Ser(98)Trp myelin breakdown and oligodendroglial death due to substitution and was located in the first transmembrane apoptosis by ALD gene mutation [30] or VLCFA accumu- loop. Login to comment 168 ABCD1 p.Ser98Trp The first event in the cerebrum of ALD patients could be mutation in the COCALD family was a Ser(98)Trp myelin breakdown and oligodendroglial death due to substitution and was located in the first transmembrane apoptosis by ALD gene mutation [30] or VLCFA accumu- loop. Login to comment 169 ABCD1 p.Ser98Leu These breakdown products of myelin can be A point mutation at the same position but giving a scavenged by activated microglia derived from peripheral Ser(98)Leu substitution was reported in other COCALD blood [32,33]; and microglia and astrocytes may secrete families [17]. Login to comment 170 ABCD1 p.Ser98Leu These breakdown products of myelin can be A point mutation at the same position but giving a scavenged by activated microglia derived from peripheral Ser(98)Leu substitution was reported in other COCALD blood [32,33]; and microglia and astrocytes may secrete families [17]. Login to comment