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Infantile onset ascending hereditary spastic paralysis.
Eltoum A, O'Rourke D, Sharif F. Eltoum A, et al. BMJ Case Rep. 2022 Jan 17;15(1):e240941. doi: 10.1136/bcr-2020-240941. BMJ Case Rep. 2022. PMID: 35039335 Free PMC article.
Infantile onset ascending hereditary spastic paraplegia represents a rare cause of early onset spasticity with a progressive prognosis....
Infantile onset ascending hereditary spastic paraplegia represents a rare cause of early onset spasticity with a progressive prognosis …
Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.
Priyadharshini Christy J, George Priya Doss C. Priyadharshini Christy J, et al. Front Biosci (Landmark Ed). 2015 Jan 1;20(2):335-76. doi: 10.2741/4313. Front Biosci (Landmark Ed). 2015. PMID: 25553455 Free article. Review.
Accumulation of large DNA variations data especially Single Amino acid Polymorphisms (SAPs) in public databases related to ALDH superfamily genes insisted us to conduct a survey on the disease associated mutations and predict their function impact on protein structure and …
Accumulation of large DNA variations data especially Single Amino acid Polymorphisms (SAPs) in public databases related to ALDH superfamily …
Type I hyperprolinemia: genotype/phenotype correlations.
Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D. Guilmatre A, et al. Hum Mutat. 2010 Aug;31(8):961-5. doi: 10.1002/humu.21296. Hum Mutat. 2010. PMID: 20524212
[Q19P; A58T] haplotype result in a moderate decrease in activity. Among the 19 HPI patients, 10 had a predicted residual activity <50%. Eight out of nine subjects with a predicted residual activity > or = 50% bore at least one c.824C>A, p.T275N allele, whic …
[Q19P; A58T] haplotype result in a moderate decrease in activity. Among the 19 HPI patients, 10 had a predicted residual activity &lt …
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.
van de Ven S, Gardeitchik T, Kouwenberg D, Kluijtmans L, Wevers R, Morava E. van de Ven S, et al. J Inherit Metab Dis. 2014 May;37(3):383-90. doi: 10.1007/s10545-013-9660-9. Epub 2013 Oct 31. J Inherit Metab Dis. 2014. PMID: 24173411
All patients showed seizures and significant behavioral problems, including anxiety and hallucinations. The clinical course was non-progressive and independent from the B6 concentration and B6 therapy. ...
All patients showed seizures and significant behavioral problems, including anxiety and hallucinations. The clinical course was non-p …
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Brévière GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gérard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D. Raux G, et al. Hum Mol Genet. 2007 Jan 1;16(1):83-91. doi: 10.1093/hmg/ddl443. Epub 2006 Nov 29. Hum Mol Genet. 2007. PMID: 17135275
An inverse correlation between plasma proline level and IQ was found. In addition, as predicted from the mouse model, hyperprolinemic VCFS subjects bearing the Met-COMT low activity allele are at risk for psychosis (OR = 2.8, 95% CI = 1.04-7.4). Finally, from the extensive …
An inverse correlation between plasma proline level and IQ was found. In addition, as predicted from the mouse model, hyperprolinemic …
Proline oxidase controls proline, glutamate, and glutamine cellular concentrations in a U87 glioblastoma cell line.
Cappelletti P, Tallarita E, Rabattoni V, Campomenosi P, Sacchi S, Pollegioni L. Cappelletti P, et al. PLoS One. 2018 Apr 25;13(4):e0196283. doi: 10.1371/journal.pone.0196283. eCollection 2018. PLoS One. 2018. PMID: 29694413 Free PMC article.
On the other hand, the extracellular levels of the three selected amino acids show a similar time course for all clones. Furthermore, PO overexpression does not modify to a significant extent the expression of GLAST and GLT-1 glutamate transporters. ...
On the other hand, the extracellular levels of the three selected amino acids show a similar time course for all clones. Furthermore, …
Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis.
Motte J, Fisse AL, Grüter T, Schneider R, Breuer T, Lücke T, Krueger S, Nguyen HP, Gold R, Ayzenberg I, Ellrichmann G. Motte J, et al. BMC Neurol. 2019 Dec 29;19(1):345. doi: 10.1186/s12883-019-1583-0. BMC Neurol. 2019. PMID: 31884946 Free PMC article.
CONCLUSION: We describe two novel ALDH4A1-variants in an adult patient with hyperprolinemia type II causing secondary pyridoxine deficiency and seizures. Severe and potentially life-threatening course of this treatable disease emphasizes the importance of diagnostic vigila …
CONCLUSION: We describe two novel ALDH4A1-variants in an adult patient with hyperprolinemia type II causing secondary pyridoxine deficiency …
Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase.
Hu CA, Lin WW, Valle D. Hu CA, et al. J Biol Chem. 1996 Apr 19;271(16):9795-800. doi: 10.1074/jbc.271.16.9795. J Biol Chem. 1996. PMID: 8621661 Free article.
Both cDNAs have the identical 1689-base pair open reading frame encoding a protein of 563 residues with a predicted molecular mass of 62 kDa. The long cDNA contains an additional 1-kb insert in the 3'-untranslated region that appears to be an alternatively spliced intron. …
Both cDNAs have the identical 1689-base pair open reading frame encoding a protein of 563 residues with a predicted molecular mass of …