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Select item 70109301.

Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

Minna E. Similä, Mari Auranen, Päivi Liisa Piirilä

Front Neurol. 2020; 11: 57. Published online 2020 Feb 4. doi: 10.3389/fneur.2020.00057

PMCID:: PMC7010930

Article PDF–458K

Select item 48851062.

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

Päivi Piirilä, Minna E. Similä, Johanna Palmio, Tomi Wuorimaa, Emil Ylikallio, Satu Sandell, Petri Haapalahti, Lasse Uotila, Henna Tyynismaa, Bjarne Udd, Mari Auranen

Front Neurol. 2016; 7: 82. Published online 2016 May 30. doi: 10.3389/fneur.2016.00082

PMCID:: PMC4885106

Article PDF–422K

Select item 48210863.

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

Mari Auranen, Johanna Palmio, Emil Ylikallio, Sanna Huovinen, Anders Paetau, Satu Sandell, Hannu Haapasalo, Kati Viitaniemi, Päivi Piirilä, Henna Tyynismaa, Bjarne Udd

Neurol Genet. 2015 Jun; 1(1): e7. Published online 2015 Jun 4. doi: 10.1212/NXG.0000000000000007

PMCID:: PMC4821086

Article PDF–789K

Select item 38759064.

First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene

Joan-Lluis Vives-Corrons, Pavla Koralkova, Josep M. Grau, Maria del Mar Mañú Pereira, Richard Van Wijk

Front Physiol. 2013; 4: 393. Published online 2013 Dec 30. doi: 10.3389/fphys.2013.00393

PMCID:: PMC3875906

Article PDF–1.8M

Select item 37820465.

Phosphofructokinase deficiency impairs ATP generation, autophagy, and redox balance in rheumatoid arthritis T cells

Zhen Yang, Hiroshi Fujii, Shalini V. Mohan, Jorg J. Goronzy, Cornelia M. Weyand

J Exp Med. 2013 Sep 23; 210(10): 2119–2134. doi: 10.1084/jem.20130252

PMCID:: PMC3782046

Article PDF–2.8M

Select item 34854426.

Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog

G. Inal Gultekin, K. Raj, S. Lehman, A. Hillström, U. Giger

Mol Cell Probes. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Mol Cell Probes. 2012 Dec; 26(6): 243–247. Published online 2012 Mar 16. doi: 10.1016/j.mcp.2012.02.004

PMCID:: PMC3485442

Article PDF–731K

Select item 31325067.

Hereditary Phosphofructokinase Deficiency in Wachtelhunds

Anna Hillström, Harold Tvedten, André Rowe, Urs Giger

J Am Anim Hosp Assoc. Author manuscript; available in PMC 2011 Jul 10.

Published in final edited form as: J Am Anim Hosp Assoc. 2011 Mar-Apr; 47(2): 145–150. Published online 2011 Feb 10. doi: 10.5326/JAAHA-MS-5619

PMCID:: PMC3132506

Article PDF–481K

Select item 29495778.

Tarui disease and distal glycogenoses: clinical and genetic update

A Toscano, O Musumeci

Acta Myol. 2007 Oct; 26(2): 105–107.

PMCID:: PMC2949577

Article PDF–160K

Select item 26920539.

Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets

Karen Gerber, John W. Harvey, Sara D'Agorne, Jonathan Wood, Urs Giger

Vet Clin Pathol. Author manuscript; available in PMC 2009 Jun 8.

Published in final edited form as: Vet Clin Pathol. 2009 Mar; 38(1): 46–51. Published online 2008 Oct 28. doi: 10.1111/j.1939-165X.2008.00089.x

PMCID:: PMC2692053

Article PDF–342K

Select item 191824610.

Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.

S. Tsujino, S. Servidei, P. Tonin, S. Shanske, G. Azan, S. DiMauro

Am J Hum Genet. 1994 May; 54(5): 812–819.

PMCID:: PMC1918246

Summary Page Browse PDF–1.4M

Select item 191510511.

Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.

R. C. Nichols, O. Rudolphi, B. Ek, R. Exelbert, P. H. Plotz, N. Raben

Am J Hum Genet. 1996 Jul; 59(1): 59–65.

PMCID:: PMC1915105

Summary Page Browse PDF–1.2M

Select item 180130512.

Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.

N Raben, R Exelbert, R Spiegel, J B Sherman, H Nakajima, P Plotz, J Heinisch

Am J Hum Genet. 1995 Jan; 56(1): 131–141.

PMCID:: PMC1801305

Summary Page Browse PDF–2.2M

Select item 116657013.

Free Mg²⁺concentration in the calf muscle of glycogen phosphorylase and phosphofructokinase deficiency patients assessed in different metabolic conditions by ³¹P MRS

Emil Malucelli, Raffaele Lodi, Andrea Martinuzzi, Caterina Tonon, Bruno Barbiroli, Stefano Iotti

Dyn Med. 2005; 4: 7. Published online 2005 Jun 6. doi: 10.1186/1476-5918-4-7

PMCID:: PMC1166570

Article PDF–261K

Select item 112921214.

Muscle phosphofructokinase deficiency. Biochemical and immunological studies of phosphofructokinase isozymes in muscle culture.

M Davidson, A F Miranda, A N Bender, S DiMauro, S Vora

J Clin Invest. 1983 Aug; 72(2): 545–550. doi: 10.1172/JCI111002

PMCID:: PMC1129212

Summary Page Browse PDF–1.2M

Select item 44240715.

Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.

S Vora, S DiMauro, D Spear, D Harker, M J Danon

J Clin Invest. 1987 Nov; 80(5): 1479–1485. doi: 10.1172/JCI113229

PMCID:: PMC442407

Summary Page Browse PDF–1.3M

Select item 43704016.

Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.

S Vora, M Davidson, C Seaman, A F Miranda, N A Noble, K R Tanaka, E P Frenkel, S Dimauro

J Clin Invest. 1983 Dec; 72(6): 1995–2006. doi: 10.1172/JCI111164

PMCID:: PMC437040

Summary Page Browse PDF–2.0M

Select item 39145217.

Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII.

S Vora, U Giger, S Turchen, J W Harvey

Proc Natl Acad Sci U S A. 1985 Dec; 82(23): 8109–8113. doi: 10.1073/pnas.82.23.8109

PMCID:: PMC391452

Summary Page Browse PDF–1.1M

Select item 20663518.

Pyrophosphate-dependent phosphofructo-1-kinase complements fructose 1,6-bisphosphatase but not phosphofructokinase deficiency in Escherichia coli.

R G Kemp, R L Tripathi

J Bacteriol. 1993 Sep; 175(17): 5723–5724. doi: 10.1128/jb.175.17.5723-5724.1993

PMCID:: PMC206635

Summary Page Browse PDF–379K

Select item 4078819.

Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

O Vasconcelos, K Sivakumar, M C Dalakas, M Quezado, J Nagle, M Leon-Monzon, M Dubnick, D C Gajdusek, L G Goldfarb

Proc Natl Acad Sci U S A. 1995 Oct 24; 92(22): 10322–10326. doi: 10.1073/pnas.92.22.10322

PMCID:: PMC40788

Summary Page Browse PDF–1.2M

Select item 831404120.

Loss of LUC7L2 and U1 snRNP Subunits Shifts Energy Metabolism from Glycolysis to OXPHOS

Alexis A. Jourdain, Bridget E. Begg, Eran Mick, Hardik Shah, Sarah E. Calvo, Owen S. Skinner, Rohit Sharma, Steven M. Blue, Gene W. Yeo, Christopher B. Burge, Vamsi K. Mootha

Mol Cell. Author manuscript; available in PMC 2022 May 6.

Published in final edited form as: Mol Cell. 2021 May 6; 81(9): 1905–1919.e12. Published online 2021 Apr 13. doi: 10.1016/j.molcel.2021.02.033