PMC Links for OMIM (Select 300011) - PMC - NCBI

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Items: 14

Select item 73044461.

Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice

Liam M. Guthrie, Shivatheja Soma, Sai Yuan, Andres Silva, Mohammad Zulkifli, Thomas C. Snavely, Hannah Faith Greene, Elyssa Nunez, Brogan Lynch, Courtney De Ville, Vinit Shanbhag, Franklin R. Lopez, Arjun Acharya, Michael J. Petris, Byung-Eun Kim, Vishal M. Gohil, James C. Sacchettini

Science. Author manuscript; available in PMC 2020 Jun 19.

Published in final edited form as: Science. 2020 May 8; 368(6491): 620–625. doi: 10.1126/science.aaz8899

PMCID:: PMC7304446

Article PDF–1.5M

Select item 42598942.

Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model

Marie Reine Haddad, Keyur D. Patel, Patricia H. Sullivan, David S. Goldstein, Kevin M. Murphy, Jose A. Centeno, Stephen G. Kaler

Mol Genet Metab. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Mol Genet Metab. 2014 Dec; 113(4): 294–300. Published online 2014 Oct 13. doi: 10.1016/j.ymgme.2014.10.001

PMCID:: PMC4259894

Article PDF–1.1M

Select item 39539173.

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

Saiqa Yasmeen, Katrine Lund, Anne De Paepe, Sylvia De Bie, Arvid Heiberg, João Silva, Márcia Martins, Tina Skjørringe, Lisbeth B Møller

Eur J Hum Genet. 2014 Apr; 22(4): 517–521. Published online 2013 Sep 4. doi: 10.1038/ejhg.2013.191

PMCID:: PMC3953917

Article PDF–327K

Select item 29177294.

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease

Stephen G. Kaler, Jingrong Tang, Anthony Donsante, Christine Kaneski

Ann Neurol. Author manuscript; available in PMC 2010 Aug 9.

Published in final edited form as: Ann Neurol. 2009 Jan; 65(1): 108–113. doi: 10.1002/ana.21576

PMCID:: PMC2917729

Article PDF–1.7M

Select item 28333945.

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

Marina L. Kennerson, Garth A. Nicholson, Stephen G. Kaler, Bartosz Kowalski, Julian F.B. Mercer, Jingrong Tang, Roxana M. Llanos, Shannon Chu, Reinaldo I. Takata, Carlos E. Speck-Martins, Jonathan Baets, Leonardo Almeida-Souza, Dirk Fischer, Vincent Timmerman, Philip E. Taylor, Steven S. Scherer, Toby A. Ferguson, Thomas D. Bird, Peter De Jonghe, Shawna M.E. Feely, Michael E. Shy, James Y. Garbern

Am J Hum Genet. 2010 Mar 12; 86(3): 343–352. doi: 10.1016/j.ajhg.2010.01.027

PMCID:: PMC2833394

Article PDF–1.3M

Select item 28120076.

Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes

Subba Rao Gangi Setty, Danièle Tenza, Elena V. Sviderskaya, Dorothy C. Bennett, Graça Raposo, Michael S. Marks

Nature. Author manuscript; available in PMC 2010 Jan 27.

Published in final edited form as: Nature. 2008 Aug 28; 454(7208): 1142–1146. Published online 2008 Jul 23. doi: 10.1038/nature07163

PMCID:: PMC2812007

Article PDF–3.3M

Select item 17356917.

A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21

R Takata, M Speck, M Passosbueno, K Abe, A Nishimura, D Dorvalina, A Monteiro, M Lima, F Kok, M Zatz

J Med Genet. 2004 Mar; 41(3): 224–229. doi: 10.1136/jmg.2003.013201

PMCID:: PMC1735691

Summary PDF–310K

Select item 17354268.

A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase

B Kim, K Smith, M Petris

J Med Genet. 2003 Apr; 40(4): 290–295. doi: 10.1136/jmg.40.4.290

PMCID:: PMC1735426

Summary PDF–199K

Select item 17158619.

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

N Ronce, M P Moizard, L Robb, A Toutain, L Villard, C Moraine

Am J Hum Genet. 1997 Jul; 61(1): 233–238. doi: 10.1016/S0002-9297(07)64297-9

PMCID:: PMC1715861

Article PDF–1.1M

Select item 171253710.

Identification of point mutations in 41 unrelated patients affected with Menkes disease.

Z Tümer, C Lund, J Tolshave, B Vural, T Tønnesen, N Horn

Am J Hum Genet. 1997 Jan; 60(1): 63–71.

PMCID:: PMC1712537

Article PDF–1.6M

Select item 157850211.

Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity

Michelle L. Schlief, Tim West, Ann Marie Craig, David M. Holtzman, Jonathan D. Gitlin

Proc Natl Acad Sci U S A. 2006 Oct 3; 103(40): 14919–14924. Published online 2006 Sep 26. doi: 10.1073/pnas.0605390103

PMCID:: PMC1578502

Article PDF–1.0M

Select item 155948612.

Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites

Marianne Paulsen, Connie Lund, Zarqa Akram, Jakob R. Winther, Nina Horn, Lisbeth Birk Møller

Am J Hum Genet. 2006 Aug; 79(2): 214–229. Published online 2006 Jun 5. doi: 10.1086/505407

PMCID:: PMC1559486

Article PDF–4.5M

Select item 128818813.

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

Lisbeth Birk Møller, Zeynep Tümer, Connie Lund, Carsten Petersen, Trevor Cole, Ralf Hanusch, Jürg Seidel, Lars Riff Jensen, Nina Horn

Am J Hum Genet. 2000 Apr; 66(4): 1211–1220. Published online 2000 Mar 17. doi: 10.1086/302857

PMCID:: PMC1288188

Article PDF–862K

Select item 123531314.

A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease

Susan L. Dagenais, Ayla N. Adam, Jeffrey W. Innis, Thomas W. Glover

Am J Hum Genet. 2001 Aug; 69(2): 420–427. Published online 2001 Jun 26. doi: 10.1086/321290

PMCID:: PMC1235313

Article PDF–328K

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