Condition: Abetalipoproteinemia


rs1367079155 in MTTP gene and Abetalipoproteinemia PMID 23475612 2013 Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.

PMID 8939939 1996 A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.

PMID 22236406 2012 Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.

PMID 26224785 2015 Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.

PMID 25108285 2014 In two patients with ABL, we identified in MTTP a novel frameshift mutation (K35Ffs*37), and four novel missense mutations, namely, G264R, Y528H, R540C, and N649S.

PMID 10946006 2000 Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.

PMID 10679949 2000 Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.

PMID 8533758 1995 Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

PMID 7782284 1995 A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia.

PMID 17275380 2007 Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.

PMID 25108285 2014 These studies indicate that missense mutations Y528H, R540C, and N649S appear to cause ABL by reducing MTTP activity rather than by reducing binding of MTTP with protein disulfide isomerase or apoB.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 10946006 2000 It is of interest that the patient having the Asn780Tyr mutation, a 27-year-old male, has none of the manifestations characteristic of classic ABL even though his plasma apoB and vitamin E were virtually undetectable.

PMID 12630961 2003 Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.

PMID 25108285 2014 These studies indicate that missense mutations Y528H, R540C, and N649S appear to cause ABL by reducing MTTP activity rather than by reducing binding of MTTP with protein disulfide isomerase or apoB.

PMID 18611256 2008 Abetalipoproteinemia: two case reports and literature review.

PMID 25108285 2014 Novel missense MTTP gene mutations causing abetalipoproteinemia.