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Structural organization and expression of the gene for the mouse GM2 activator protein.

Mammalian genome : official journal of the International Mammalian Genome Society

Bertoni C, Appolloni MG, Stirling JL, Li SC, Li YT, Orlacchio A, Beccari T.
PMID: 27518306
Mamm Genome. 1997 Feb;8(2):90-3. doi: 10.1007/s003359900364.

The GM2 activator protein is an essential component for the degradation of GM2 ganglioside by hexosaminidase A in vivo. Mutations in the human gene coding for the GM2 activator protein cause the AB variant of GM2-gangliosidosis, a condition that...

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Bertoni C, Appolloni MG, Stirling JL, et al. Structural organization and expression of the gene for the mouse GM2 activator protein. Mamm Genome. 1997;8(2):90-3doi: 10.1007/s003359900364.
Bertoni, C., Appolloni, M. G., Stirling, J. L., Li, S. C., Li, Y. T., Orlacchio, A., & Beccari, T. (1997). Structural organization and expression of the gene for the mouse GM2 activator protein. Mammalian genome : official journal of the International Mammalian Genome Society, 8(2), 90-3. https://doi.org/10.1007/s003359900364
Bertoni, C, et al. "Structural organization and expression of the gene for the mouse GM2 activator protein." Mammalian genome : official journal of the International Mammalian Genome Society vol. 8,2 (1997): 90-3. doi: https://doi.org/10.1007/s003359900364
Bertoni C, Appolloni MG, Stirling JL, Li SC, Li YT, Orlacchio A, Beccari T. Structural organization and expression of the gene for the mouse GM2 activator protein. Mamm Genome. 1997 Feb;8(2):90-3. doi: 10.1007/s003359900364. PMID: 27518306.
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Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker.

Neurology. Genetics

Goyal NA, Mozaffar T.
PMID: 27066555
Neurol Genet. 2015 Jul 30;1(2):e18. doi: 10.1212/NXG.0000000000000018. eCollection 2015 Aug.

OBJECTIVE: Macroglossia is a well-known feature of amyloidosis; however, tongue atrophy and fasciculations are rarely seen and can lead to the misdiagnosis of amyotrophic lateral sclerosis (ALS).METHODS: We identified 2 unrelated patients with atypical features of tongue atrophy and...

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Goyal NA, Mozaffar T. Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker. Neurol Genet. 2015;1(2):e18doi: 10.1212/NXG.0000000000000018.
Goyal, N. A., & Mozaffar, T. (2015). Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker. Neurology. Genetics, 1(2), e18. https://doi.org/10.1212/NXG.0000000000000018
Goyal, Namita A, and Mozaffar, Tahseen. "Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker." Neurology. Genetics vol. 1,2 (2015): e18. doi: https://doi.org/10.1212/NXG.0000000000000018
Goyal NA, Mozaffar T. Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker. Neurol Genet. 2015 Jul 30;1(2):e18. doi: 10.1212/NXG.0000000000000018. eCollection 2015 Aug. PMID: 27066555; PMCID: PMC4807904.
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Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction.

Indian journal of clinical biochemistry : IJCB

Christopher R, Shetty KT.
PMID: 23100874
Indian J Clin Biochem. 1997 Jul;12(2):102-7. doi: 10.1007/BF02873671.

The cerebral sphingolipidoses which form part of a larger group of lysosomal disorders can be detected and conclusively confirmed by the demonstration of the relevent enzyme deficiency in easily available tissue samples like serum. We have assayed acid β-galactosidase,...

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Christopher R, Shetty KT. Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction. Indian J Clin Biochem. 1997;12(2):102-7doi: 10.1007/BF02873671.
Christopher, R., & Shetty, K. T. (1997). Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction. Indian journal of clinical biochemistry : IJCB, 12(2), 102-7. https://doi.org/10.1007/BF02873671
Christopher, R, and Shetty, K T. "Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction." Indian journal of clinical biochemistry : IJCB vol. 12,2 (1997): 102-7. doi: https://doi.org/10.1007/BF02873671
Christopher R, Shetty KT. Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction. Indian J Clin Biochem. 1997 Jul;12(2):102-7. doi: 10.1007/BF02873671. PMID: 23100874; PMCID: PMC3453671.
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Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings.

Movement disorders clinical practice

Grim KK, Phillips GD, Renner DR.
PMID: 30363497
Mov Disord Clin Pract. 2015 Jun 30;2(3):289-290. doi: 10.1002/mdc3.12194. eCollection 2015 Sep.

Late-onset Tay-Sachs disease (LOTS) is a rare autosomal-recessive genetic disorder caused by insufficient activity of the lysosomal enzyme, beta-hexosaminidase A, resulting in intracellular accumulation of gangliosides in the central nervous system. Clinical manifestations can include unsteadiness in gait, muscle...

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Grim KK, Phillips GD, Renner DR. Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings. Mov Disord Clin Pract. 2015;2(3):289-290doi: 10.1002/mdc3.12194.
Grim, K. K., Phillips, G. D., & Renner, D. R. (2015). Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings. Movement disorders clinical practice, 2(3), 289-290. https://doi.org/10.1002/mdc3.12194
Grim, Kristina K, et al. "Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings." Movement disorders clinical practice vol. 2,3 (2015): 289-290. doi: https://doi.org/10.1002/mdc3.12194
Grim KK, Phillips GD, Renner DR. Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings. Mov Disord Clin Pract. 2015 Jun 30;2(3):289-290. doi: 10.1002/mdc3.12194. eCollection 2015 Sep. PMID: 30363497; PMCID: PMC6178690.
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Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses.

iScience

Iwan K, Clayton R, Mills P, Csanyi B, Gissen P, Mole SE, Palmer DN, Mills K, Heywood WE.
PMID: 33532713
iScience. 2020 Dec 31;24(2):102020. doi: 10.1016/j.isci.2020.102020. eCollection 2021 Feb 19.

The neuronal ceroid lipofuscinoses (NCL) are a group of 13 rare neurodegenerative disorders characterized by accumulation of cellular storage bodies. There are few therapeutic options, and existing tests do not monitor disease progression and treatment response. However, urine biomarkers...

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Iwan K, Clayton R, Mills P, et al. Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses. iScience. 2020;24(2):102020doi: 10.1016/j.isci.2020.102020.
Iwan, K., Clayton, R., Mills, P., Csanyi, B., Gissen, P., Mole, S. E., Palmer, D. N., Mills, K., & Heywood, W. E. (2021). Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses. iScience, 24(2), 102020. https://doi.org/10.1016/j.isci.2020.102020
Iwan, Katharina, et al. "Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses." iScience vol. 24,2 (2021): 102020. doi: https://doi.org/10.1016/j.isci.2020.102020
Iwan K, Clayton R, Mills P, Csanyi B, Gissen P, Mole SE, Palmer DN, Mills K, Heywood WE. Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses. iScience. 2020 Dec 31;24(2):102020. doi: 10.1016/j.isci.2020.102020. eCollection 2021 Feb 19. PMID: 33532713; PMCID: PMC7822952.
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Sequence analysis of the .

Veterinary world

Neov B, Krastanov J, Angelova T, Palova N, Laleva S, Hristov P.
PMID: 33642786
Vet World. 2021 Jan;14(1):56-60. doi: 10.14202/vetworld.2021.56-60. Epub 2021 Jan 08.

BACKGROUND AND AIM: Jacob sheep are a rare ancient breed of sheep believed to have originated from the Mediterranean area but which are now kept throughout the world. These sheep have recently attracted medical interest due to the observation...

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Neov B, Krastanov J, Angelova T, et al. Sequence analysis of the . Vet World. 2021;14(1):56-60doi: 10.14202/vetworld.2021.56-60.
Neov, B., Krastanov, J., Angelova, T., Palova, N., Laleva, S., & Hristov, P. (2021). Sequence analysis of the . Veterinary world, 14(1), 56-60. https://doi.org/10.14202/vetworld.2021.56-60
Neov, Boyko, et al. "Sequence analysis of the ." Veterinary world vol. 14,1 (2021): 56-60. doi: https://doi.org/10.14202/vetworld.2021.56-60
Neov B, Krastanov J, Angelova T, Palova N, Laleva S, Hristov P. Sequence analysis of the . Vet World. 2021 Jan;14(1):56-60. doi: 10.14202/vetworld.2021.56-60. Epub 2021 Jan 08. PMID: 33642786; PMCID: PMC7896910.
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Late-Onset Tay-Sachs Disease in an Irish Family.

Movement disorders clinical practice

Lefter S, O' Mahony O, Sweeney B, Ryan AM.
PMID: 33426165
Mov Disord Clin Pract. 2020 Oct 28;8(1):106-110. doi: 10.1002/mdc3.13096. eCollection 2021 Jan.

BACKGROUND: Late-onset Tay-Sachs disease (LOTS) is an autosomal-recessive lysosomal storage disease caused by deficient β-hexosaminidase A activity. LOTS is rare in the Ashkenazi Jews, but even rarer in the non-Jewish population.CASES: We report an Irish family expanding the LOTS...

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Lefter S, O' Mahony O, Sweeney B, et al. Late-Onset Tay-Sachs Disease in an Irish Family. Mov Disord Clin Pract. 2020;8(1):106-110doi: 10.1002/mdc3.13096.
Lefter, S., O' Mahony, O., Sweeney, B., & Ryan, A. M. (2021). Late-Onset Tay-Sachs Disease in an Irish Family. Movement disorders clinical practice, 8(1), 106-110. https://doi.org/10.1002/mdc3.13096
Lefter, Stela, et al. "Late-Onset Tay-Sachs Disease in an Irish Family." Movement disorders clinical practice vol. 8,1 (2021): 106-110. doi: https://doi.org/10.1002/mdc3.13096
Lefter S, O' Mahony O, Sweeney B, Ryan AM. Late-Onset Tay-Sachs Disease in an Irish Family. Mov Disord Clin Pract. 2020 Oct 28;8(1):106-110. doi: 10.1002/mdc3.13096. eCollection 2021 Jan. PMID: 33426165; PMCID: PMC7780940.
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Functionality of a bicistronic construction containing .

Neural regeneration research

Shaimardanova AA, Chulpanova DS, Solovyeva VV, Aimaletdinov AM, Rizvanov AA.
PMID: 34100447
Neural Regen Res. 2022 Jan;17(1):122-129. doi: 10.4103/1673-5374.314310.

Tay-Sachs disease and Sandhoff disease are severe hereditary neurodegenerative disorders caused by a deficiency of β-hexosaminidase A (HexA) enzyme, which results in the accumulation of GM2 gangliosides in the nervous system cells. In this work, we analyzed the efficacy...

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Shaimardanova AA, Chulpanova DS, Solovyeva VV, et al. Functionality of a bicistronic construction containing . Neural Regen Res. 2022;17(1):122-129doi: 10.4103/1673-5374.314310.
Shaimardanova, A. A., Chulpanova, D. S., Solovyeva, V. V., Aimaletdinov, A. M., & Rizvanov, A. A. (2022). Functionality of a bicistronic construction containing . Neural regeneration research, 17(1), 122-129. https://doi.org/10.4103/1673-5374.314310
Shaimardanova, Alisa A, et al. "Functionality of a bicistronic construction containing ." Neural regeneration research vol. 17,1 (2022): 122-129. doi: https://doi.org/10.4103/1673-5374.314310
Shaimardanova AA, Chulpanova DS, Solovyeva VV, Aimaletdinov AM, Rizvanov AA. Functionality of a bicistronic construction containing . Neural Regen Res. 2022 Jan;17(1):122-129. doi: 10.4103/1673-5374.314310. PMID: 34100447; PMCID: PMC8451576.
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Expanding the spectrum of .

Molecular genetics and metabolism reports

Sheth J, Mistri M, Datar C, Kalane U, Patil S, Kamate M, Shah H, Nampoothiri S, Gupta S, Sheth F.
PMID: 27896118
Mol Genet Metab Rep. 2014 Sep 29;1:425-430. doi: 10.1016/j.ymgmr.2014.09.004. eCollection 2014.

Tay-Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in

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Sheth J, Mistri M, Datar C, et al. Expanding the spectrum of . Mol Genet Metab Rep. 2014;1:425-430doi: 10.1016/j.ymgmr.2014.09.004.
Sheth, J., Mistri, M., Datar, C., Kalane, U., Patil, S., Kamate, M., Shah, H., Nampoothiri, S., Gupta, S., & Sheth, F. (2014). Expanding the spectrum of . Molecular genetics and metabolism reports, 1425-430. https://doi.org/10.1016/j.ymgmr.2014.09.004
Sheth, Jayesh, et al. "Expanding the spectrum of ." Molecular genetics and metabolism reports vol. 1 (2014): 425-430. doi: https://doi.org/10.1016/j.ymgmr.2014.09.004
Sheth J, Mistri M, Datar C, Kalane U, Patil S, Kamate M, Shah H, Nampoothiri S, Gupta S, Sheth F. Expanding the spectrum of . Mol Genet Metab Rep. 2014 Sep 29;1:425-430. doi: 10.1016/j.ymgmr.2014.09.004. eCollection 2014. PMID: 27896118; PMCID: PMC5121347.
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The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.

Neuroscience letters

Toro C, Zainab M, Tifft CJ.
PMID: 34450229
Neurosci Lett. 2021 Nov 01;764:136195. doi: 10.1016/j.neulet.2021.136195. Epub 2021 Aug 25.

No abstract available.

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Toro C, Zainab M, Tifft CJ. The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment. Neurosci Lett. 2021;764:136195doi: 10.1016/j.neulet.2021.136195.
Toro, C., Zainab, M., & Tifft, C. J. (2021). The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment. Neuroscience letters, 764136195. https://doi.org/10.1016/j.neulet.2021.136195
Toro, Camilo, et al. "The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment." Neuroscience letters vol. 764 (2021): 136195. doi: https://doi.org/10.1016/j.neulet.2021.136195
Toro C, Zainab M, Tifft CJ. The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment. Neurosci Lett. 2021 Nov 01;764:136195. doi: 10.1016/j.neulet.2021.136195. Epub 2021 Aug 25. PMID: 34450229; PMCID: PMC8572160.
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Adult onset familial cherry-red spot myoclonus.

Journal of movement disorders

Kim CK, Jeon BS.
PMID: 24868356
J Mov Disord. 2009 May;2(1):50-2. doi: 10.14802/jmd.09014. Epub 2009 Apr 30.

We report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were...

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Kim CK, Jeon BS. Adult onset familial cherry-red spot myoclonus. J Mov Disord. 2009;2(1):50-2doi: 10.14802/jmd.09014.
Kim, C. K., & Jeon, B. S. (2009). Adult onset familial cherry-red spot myoclonus. Journal of movement disorders, 2(1), 50-2. https://doi.org/10.14802/jmd.09014
Kim, Chi Kyung, and Jeon, Beom S. "Adult onset familial cherry-red spot myoclonus." Journal of movement disorders vol. 2,1 (2009): 50-2. doi: https://doi.org/10.14802/jmd.09014
Kim CK, Jeon BS. Adult onset familial cherry-red spot myoclonus. J Mov Disord. 2009 May;2(1):50-2. doi: 10.14802/jmd.09014. Epub 2009 Apr 30. PMID: 24868356; PMCID: PMC4027691.
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Effect of two preservation methods on the viability and enzyme production of a recombinant Komagataella phaffii (Pichia pastoris) strain.

Cryobiology

María AA, Rodríguez-López EA, Espejo-Mojica AJ, Mosquera-Arévalo AR, Alméciga-Díaz CJ, Trespalacios-Rangel AA.
PMID: 34951975
Cryobiology. 2021 Dec 21; doi: 10.1016/j.cryobiol.2021.12.004. Epub 2021 Dec 21.

The methylotrophic yeast Komagataella phaffii, previously known as Pichia pastoris, has been reported as a host for producing human recombinant lysosomal enzymes intended for enzyme replacement therapy. K. phaffii has advantages such as easy genetic handling, rapid growth, cost-effective...

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María AA, Rodríguez-López EA, Espejo-Mojica AJ, et al. Effect of two preservation methods on the viability and enzyme production of a recombinant Komagataella phaffii (Pichia pastoris) strain. Cryobiology. 2021;doi: 10.1016/j.cryobiol.2021.12.004.
María, A. A., Rodríguez-López, E. A., Espejo-Mojica, A. J., Mosquera-Arévalo, A. R., Alméciga-Díaz, C. J., & Trespalacios-Rangel, A. A. (2021). Effect of two preservation methods on the viability and enzyme production of a recombinant Komagataella phaffii (Pichia pastoris) strain. Cryobiology, . https://doi.org/10.1016/j.cryobiol.2021.12.004
María, Alvarado-Fernández Angela, et al. "Effect of two preservation methods on the viability and enzyme production of a recombinant Komagataella phaffii (Pichia pastoris) strain." Cryobiology vol. (2021). doi: https://doi.org/10.1016/j.cryobiol.2021.12.004
María AA, Rodríguez-López EA, Espejo-Mojica AJ, Mosquera-Arévalo AR, Alméciga-Díaz CJ, Trespalacios-Rangel AA. Effect of two preservation methods on the viability and enzyme production of a recombinant Komagataella phaffii (Pichia pastoris) strain. Cryobiology. 2021 Dec 21; doi: 10.1016/j.cryobiol.2021.12.004. Epub 2021 Dec 21. PMID: 34951975.
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Showing 1 to 12 of 33 entries