๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene

โœ Scribed by Eun Sil Lee; Han Ku Moon; Yong Hoon Park; James Garbern; Grace M. Hobson

Book ID
119301457
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
177 KB
Volume
224
Category
Article
ISSN
0022-510X

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

X-linked spastic paraplegia due to a mut
X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)
โœ Hodes, M.E.; Hadjisavvas, Andreas; Butler, Ian J.; Aydanian, Antonina; Dlouhy, S ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 8 KB ๐Ÿ‘ 1 views

A transition C506T was found in exon 4 of the proteolipid protein gene of a boy with spastic paraplegia. This mutation resulted in the substitution of phenylalanine for serine 169, which is in the third transmembrane domain of the proteolipid protein molecule. The mutation apparently arose de novo,

Family with Pelizaeus-Merzbacher disease
Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene
โœ Bond, Cherie; Si, Xiaoli; Crisp, Margaret; Wong, Paul; Paulson, George W.; Boese ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 28 KB ๐Ÿ‘ 2 views

We report on a C-to-T transition in exon 6 of the PLP gene in a male with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The transition changes a glutamine at amino acid residue 233 to a termination codon. This premature stop codon probably results in a truncated protein that is not funct