Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation

Autor: Wei-Lin Huang, Maija R. Steenari, Rebekah Barrick, Mariella T. Simon, Richard Chang, Shaya S. Eftekharian, Alexander Stover, Philip H. Schwartz, Alexandra Latini, Jose E. Abdenur

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101025- (2024)

Background: LBSL is a mitochondrial disorder caused by mutations in the mitochondrial aspartyl-tRNA synthetase gene DARS2, resulting in a distinctive pattern on brain magnetic resonance imaging (MRI) and spectroscopy. Clinical presentation varies fro

Externí odkaz: https://doaj.org/article/1a45fc52d11a4d23afe8ed165c1b53b1

The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency

Autor: Yue Huang, Richard Chang, Jose E. Abdenur

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100885- (2022)

S-Adenosylhomocysteine (SAH) hydrolase deficiency is an autosomal recessive disorder in methionine metabolism caused by pathogenic variants in the gene AHCY. To date, only 15 patients with this disorder have been reported, including several patients

Externí odkaz: https://doaj.org/article/7bfa90a56a824c9f832467c635b38698

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Autor: Laura A. Tseng, Jose E. Abdenur, Ashley Andrews, Verena G. Aziz, Levinus A. Bok, Monica Boyer, Daniela Buhas, Hans Hartmann, Emma J. Footitt, Sabine Grønborg, Mirian C.H. Janssen, Nicola Longo, Roelineke J. Lunsing, Alex E. MacKenzie, Frits A. Wijburg, Sidney M. Gospe, Curtis R. Coughlin, Clara D.M. van Karnebeek

Publikováno v: Molecular Genetics and Metabolism, 135, 350-356
Molecular Genetics and Metabolism, 135, 4, pp. 350-356
Molecular Genetics and Metabolism, 135(4), 350-356. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular genetics and metabolism, 135(4), 350-356. Academic Press Inc.

Contains fulltext : 248229.pdf (Publisher’s version ) (Closed access) BACKGROUND: Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual deve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::907764e252a1a086b2cb348bc7323940
https://doi.org/10.1016/j.ymgme.2022.02.005

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder

Autor: Stephen T. McGarvey, Daniel D. Nguyen, Shaya S. Eftekharian, Daniel E. Weeks, Sha Tang, Mariella Simon, Sacha Ferdinandusse, Muagututia Sefuiva Reupena, David Dimmock, Take Naseri, Jose E. Abdenur, Frédéric M. Vaz, James Pitt, Ryan L. Minster, Sansan Lee, Katarzyna A. Ellsworth

Publikováno v: American Journal of Medical Genetics. Part a
American journal of medical genetics. Part A, 185(1), 157-167. Wiley-Liss Inc.

Mutations in the short‐chain enoyl‐CoA hydratase (SCEH) gene, ECHS1, cause a rare autosomal recessive disorder of valine catabolism. Patients usually present with developmental delay, regression, dystonia, feeding difficulties, and abnormal MRI w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a22f434ad33fbe033081acfb7869f48
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85094115093&origin=inward

Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes

Autor: Paul J. Benke, Mariella Simon, S. Eftekharian, Aaron F. Osborne, Bruce H. Braffman, Raymond Y. Wang, Sha Tang, Ryan J. Taft, Richard Chang, Maija R. Steenari, Alexander Stover, Jose E. Abdenur, Paul Wuh-Liang Hwu

Publikováno v: Mol Genet Metab

Primary mitochondrial complex I deficiency is the most common defect of the mitochondrial respiratory chain. It is caused by defects in structural components and assembly factors of this large protein complex. Mutations in the assembly factor NDUFAF5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c30d5c2feec5044c9c4c66b6af9ae40
https://doi.org/10.1016/j.ymgme.2018.11.001