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Select item 89267781.

Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome

Nesrine Kerkeni, Maher Kharrat, Faouzi Maazoul, Hela Boudabous, Ridha M’rad, Mediha Trabelsi

J Clin Neurol. 2022 Mar; 18(2): 214–222. Published online 2022 Feb 14. doi: 10.3988/jcn.2022.18.2.214

PMCID:: PMC8926778

Abstract Article PDF–3.1M

Select item 85485842.

Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1

Omid Alavi, Hossein Jafari Khamirani, Sina Zoghi, Afrooz Feili, Seyed Alireza Dastgheib, Seyed Mohammad Bagher Tabei, Jamal Manoochehri, Seyed Mehdi Panahandeh, Majid Kamali, Mehdi Dianatpour

Hum Genome Var. 2021; 8: 39. Published online 2021 Oct 26. doi: 10.1038/s41439-021-00171-9

PMCID:: PMC8548584

Abstract Article PDF–1.3M

Select item 72437223.

Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria

Soubhi Tenawi, Rawan Al Khudari, Diana Alasmar

Oxf Med Case Reports. 2020 Apr-May; 2020(4-5): omaa031. Published online 2020 May 23. doi: 10.1093/omcr/omaa031

PMCID:: PMC7243722

Abstract Article PDF–312K

Select item 58905594.

Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters

Pasquale Loiudice, Debora Napoli, Maria Cristina Ragone, Marco Nardi, Giamberto Casini

J Pediatr Neurosci. 2017 Oct-Dec; 12(4): 360–362. doi: 10.4103/jpn.JPN_45_17

PMCID:: PMC5890559

Abstract Article

Select item 48623005.

Warburg micro syndrome in siblings from India

Prabhjot Kaur Sekhon, R. Premalatha, Sarala Sabapathy

J Pediatr Neurosci. 2016 Jan-Mar; 11(1): 83–85. doi: 10.4103/1817-1745.181255

PMCID:: PMC4862300

Abstract Article

Select item 47855646.

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

Eri Imagawa, Ryoko Fukai, Mahdiyeh Behnam, Manisha Goyal, Narges Nouri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Mansour Salehi, Seema Kapoor, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

Hum Genome Var. 2015; 2: 15034. Published online 2015 Sep 17. doi: 10.1038/hgv.2015.34

PMCID:: PMC4785564

Abstract Article PDF–452K

Select item 47549217.

RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex

Qinwei Wu, Xiaqin Sun, Weihua Yue, Tianlan Lu, Yanyan Ruan, Tianda Chen, Dai Zhang

Mol Brain. 2016; 9: 19. Published online 2016 Feb 16. doi: 10.1186/s13041-016-0198-2

PMCID:: PMC4754921

Abstract Article PDF–2.2M

Select item 41132728.

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

Mark T Handley, André Mégarbané, Alison M Meynert, Stephen Brown, Elisabeth Freyer, Martin S Taylor, Ian J Jackson, Irene A Aligianis

Mol Genet Genomic Med. 2014 Jul; 2(4): 319–325. Published online 2014 Mar 11. doi: 10.1002/mgg3.70

PMCID:: PMC4113272

Abstract Article PDF–824K

Select item 17629689.

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

A Megarbane, R Choueiri, J Bleik, M Mezzina, C Caillaud

J Med Genet. 1999 Aug; 36(8): 637–640.

PMCID:: PMC1762968

Summary PDF–113K

Select item 1064152410.

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis

Robert S. Kiss, Jarred Chicoine, Youssef Khalil, Robert Sladek, He Chen, Alessandro Pisaturo, Cyril Martin, Jessica D. Dale, Tegan A. Brudenell, Archith Kamath, Jeffrey Kyei-Boahen, Anouar Hafiane, Girija Daliah, Célia Alecki, Tayah S. Hopes, Martin Heier, Irene A. Aligianis, Jean-Jacques Lebrun, Julie Aspden, Emanuele Paci, Anja Kerksiek, Dieter Lütjohann, Peter Clayton, Jimi C. Wills, Alex von Kriegsheim, Tommy Nilsson, Eamonn Sheridan, Mark T. Handley

J Biol Chem. 2023 Nov; 299(11): 105295. Published online 2023 Sep 28. doi: 10.1016/j.jbc.2023.105295

PMCID:: PMC10641524

Abstract Article PDF–3.8M

Select item 903755511.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth

Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177

PMCID:: PMC9037555

Abstract Article PDF–2.0M

Select item 730435212.

Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome

Wanxue Xu, Lacey Plummer, Richard Quinton, Francesca Swords, William F. Crowley, Stephanie B. Seminara, Ravikumar Balasubramanian

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005033. doi: 10.1101/mcs.a005033

PMCID:: PMC7304352

Abstract Article PDF–1.6M

Select item 491356113.

A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration

T. Mhlanga‐Mutangadura, G.S. Johnson, A. Ashwini, G.D. Shelton, S.A. Wennogle, G.C. Johnson, K. Kuroki, D.P. O'Brien

J Vet Intern Med. 2016 May-Jun; 30(3): 813–818. Published online 2016 Mar 10. doi: 10.1111/jvim.13921

Correction in:: J Vet Intern Med. 2022 Sep 29

PMCID:: PMC4913561

Abstract Article PDF–952K

Select item 426619114.

Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice

Anna Kyunglim Park, Ryan P Liegel, Adam Ronchetti, Allison D Ebert, Aron Geurts, Duska J Sidjanin

BMC Genet. 2014; 15: 135. Published online 2014 Dec 5. doi: 10.1186/s12863-014-0135-2

PMCID:: PMC4266191

Abstract Article PDF–2.3M

Select item 241308515.

Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders

Lucien Corbeel, Kathleen Freson

Eur J Pediatr. 2008 Jul; 167(7): 723–729. Published online 2008 May 8. doi: 10.1007/s00431-008-0740-z

PMCID:: PMC2413085

Abstract Article PDF–232K

Select item 150250016.

Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3

Ayuko Sakane, Shinji Manabe, Hiroyoshi Ishizaki, Miki Tanaka-Okamoto, Emi Kiyokage, Kazunori Toida, Takayuki Yoshida, Jun Miyoshi, Haruyuki Kamiya, Yoshimi Takai, Takuya Sasaki

Proc Natl Acad Sci U S A. 2006 Jun 27; 103(26): 10029–10034. Published online 2006 Jun 16. doi: 10.1073/pnas.0600304103

PMCID:: PMC1502500

Abstract Article PDF–1.5M

Select item 142469617.

Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

Irene A. Aligianis, Neil V. Morgan, Marina Mione, Colin A. Johnson, Elisabeth Rosser, Raoul C. Hennekam, Gill Adams, Richard C. Trembath, Daniela T. Pilz, Neil Stoodley, Anthony T. Moore, Steve Wilson, Eamonn R. Maher

Am J Hum Genet. 2006 Apr; 78(4): 702–707. Published online 2006 Feb 14. doi: 10.1086/502681

PMCID:: PMC1424696

Abstract Article PDF–2.0M

Select item 1055902118.

Hotspots and frontiers of genetic research on pediatric cataracts from 2013 to 2022: a scientometric analysis

Yuan Tan, Wei Jiang, Le-Yi Hu, Yan-Yu Shen, Hui Chen, Ying-Shi Zou, Li-Xia Luo, Guang-Ming Jin, Zhen-Zhen Liu

Int J Ophthalmol. 2023; 16(10): 1682–1691. Published online 2023 Oct 18. doi: 10.18240/ijo.2023.10.19

PMCID:: PMC10559021

Abstract Article PDF–5.1M

Select item 1042168519.

First Clinical Report of Two RAB3GAP1 Pathogenic Variant in Warburg Micro Syndrome

Nejmiye Akkuş, Tuğba Akın Duman

J Pediatr Genet. 2023 Sep; 12(3): 193–198. Published online 2023 May 11. doi: 10.1055/s-0043-1768693

PMCID:: PMC10421685

Abstract Article PDF–2.2M

Select item 507967520.

TBC1D20 mediates autophagy as a key regulator of autophagosome maturation

D. J. Sidjanin, Anna K. Park, Adam Ronchetti, Jamaria Martins, William T. Jackson

Autophagy. 2016; 12(10): 1759–1775. Published online 2016 Aug 3. doi: 10.1080/15548627.2016.1199300

PMCID:: PMC5079675

Abstract Article PDF–1.8M

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