Leucine

presenilin 1 ; Homo sapiens







17 Article(s)
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1 34603012 Functional Metabolic Mapping Reveals Highly Active Branched-Chain Amino Acid Metabolism in Human Astrocytes, Which Is Impaired in iPSC-Derived Astrocytes in Alzheimer's Disease. 2021 1
2 31385772 Probable Novel PSEN1 Gln222Leu Mutation in a Chinese Family with Early-Onset Alzheimer's Disease. 2019 1
3 28532645 Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia. 2017 Aug 1
4 27785004 PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea. 2016 1
5 24906965 Clinical presentation of early-onset Alzheimer's disease as a result of mutation in exon 12 of the PSEN-1 gene. 2014 Dec 1
6 21357415 Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds. 2011 Apr 29 1
7 21501661 A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease. 2011 May 27 1
8 18032377 Identification of gamma-secretase inhibitor potency determinants on presenilin. 2008 Feb 1 4
9 16916581 Chinese Presenilin-1 V97L mutation enhanced Abeta42 levels in SH-SY5Y neuroblastoma cells. 2006 Oct 2 1
10 15851849 One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease. 2005 Apr 1
11 16388371 A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease. 2005 Dec 1
12 15196662 A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5. 2004 Jul 8 1
13 12048239 Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production. 2002 Jun 11 1
14 12484344 A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. 2002 Oct 3
15 11599221 [Familial Alzheimer's disease connected with mutation in presenilin gene 1 (P117L)]. 2001 Mar-Apr 2
16 10575009 The influence of endoproteolytic processing of familial Alzheimer's disease presenilin 2 on abeta42 amyloid peptide formation. 1999 Dec 3 1
17 9436726 Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene. 1998 Jan 1