P652: Considerations of variant interpretation in galactosemia: Challenges of creating ACMG specifications for GALT

Authors: Alexa Dickson, Diane Zastrow, Robert Lewis, Brian Shayota, Tatiana Yuzyuk, Gerard Berry, Didem Demirbas, Judith Fridovich-Keil, Rong Mao, Christina Hung

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 103021- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442501060X; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/edc5749d87d4489e9da014877178a27c

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Authors: Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: classic galactosemia, brain, galactose, cognitive problems, neurodevelopment, movement disorders, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1355962/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8

ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia

Authors: Jenny Lai, Didem Demirbas, Junho Kim, Ailsa M. Jeffries, Allie Tolles, Junseok Park, Thomas W. Chittenden, Patrick G. Buckley, Timothy W. Yu, Michael A. Lodato, Eunjung Alice Lee

Source: Cell Reports, Vol 43, Iss 1, Pp 113622- (2024)

Subject Terms: CP: Neuroscience, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124723016340; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/bb2b0c8299d2444ab13e02b7f0a6bb28

Galactose epimerase deficiency: lessons from the GalNet registry

Authors: Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo

Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

Subject Terms: Galactose epimerase deficiency, Galactosemia type III, Galactosemias Network, Galactose-restricted diet, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/7b30d0500cf94f298bf161b0d11d2fb6

[13C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis

Authors: Can Ficicioglu, Didem Demirbas, Britt Derks, G. Shashidhar Pai, David J. Timson, Maria Estela Rubio‐Gozalbo, Gerard T. Berry

Source: JIMD Reports, Vol 59, Iss 1, Pp 104-109 (2021)

Subject Terms: galactosemia, GALK1 deficiency, in vivo galactose oxidation, stable‐isotope labeled galactose, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/b8646ce29b08414b95415f29487e97a8

The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation

Authors: Gerard T. Berry, Elizabeth D. Blume, Ann Wessel, Tajinder Singh, Leah Hecht, Deborah Marsden, Inderneel Sahai, Scott Elisofon, Michael Ferguson, Heung Bae Kim, David J. Harris, Didem Demirbas, Mohammed Almuqbil, William L. Nyhan

Source: JIMD Reports, Vol 54, Iss 1, Pp 3-8 (2020)

Subject Terms: cardiomyopathy, heart failure, heart transplantation, liver transplantation, organic acid disorder, propionic acidemia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/ab2641ca9a6d489a88e3074f2d6a20bb

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

Authors: Jirair K. Bedoyan, Leah Hecht, Shulin Zhang, Stacey Tarrant, Ann Bergin, Didem Demirbas, Edward Yang, Ha Kyung Shin, George J. Grahame, Suzanne D. DeBrosse, Charles L. Hoppel, Douglas S. Kerr, Gerard T. Berry

Source: JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)

Subject Terms: branched‐chain 2‐ketoacid dehydrogenase, developmental delay, lactic acidosis, PDP1, pyruvate dehydrogenase complex deficiency, pyruvate dehydrogenase phosphatase deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/b59d2924e8ea4aa7970c206f3ceba207

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

Authors: Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho

Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)

Subject Terms: Classic galactosemia, Inherited metabolic disorder, Galactose metabolism, Arginine, Amino acid supplementation, Chemical chaperones, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0954-8; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/14f787f239734944a06747ee7ac1581c

A yeast-based chemical screen identifies a PDE inhibitor that elevates steroidogenesis in mouse Leydig cells via PDE8 and PDE4 inhibition.

Authors: Didem Demirbas, Arlene R Wyman, Masami Shimizu-Albergine, Ozgur Cakici, Joseph A Beavo, Charles S Hoffman

Source: PLoS ONE, Vol 8, Iss 8, p e71279 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3743849?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/93923a8aea084547805499afdd9abfba

Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts

Authors: Balakrishnan, Bijina, Chen, Wyman, Tang, Manshu, Huang, Xiaoping, Cakici, Didem Demirbas, Siddiqi, Anwer, Berry, Gerard, Lai, Kent

Source: In Biochemical and Biophysical Research Communications 29 January 2016 470(1):205-212

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Stress Analysis of 2D-FG Rectangular Plates with Multi-Gene Genetic Programming

Authors: Munise Didem Demirbas, Didem Çakır, Celal Ozturk, Sibel Arslan

Source: Applied Sciences, Vol 12, Iss 16, p 8198 (2022)

Subject Terms: multi-gene genetic programming, genetic programming, thermal stress problem, compositional gradient exponent, functionally graded material, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3417/12/16/8198; https://doaj.org/toc/2076-3417

Access URL: https://doaj.org/article/65576e820c80428cb18d5e66eb527feb

Evaluation of Stress Distribution of Isotropic, Composite, and FG Beams with Different Geometries in Nonlinear Regime via Carrera-Unified Formulation and Lagrange Polynomial Expansions

Authors: Erasmo Carrera, Munise Didem Demirbas, Riccardo Augello

Source: Applied Sciences, Vol 11, Iss 22, p 10627 (2021)

Subject Terms: Carrera-Unified formulation, geometrical nonlinear regime, composite structures, functionally graded structures, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3417/11/22/10627; https://doaj.org/toc/2076-3417

Access URL: https://doaj.org/article/b3b872e4c81b428a815d35ca900c3d88