alanine has been researched along with Acroosteolysis, Giaccai Type in 8 studies
Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.
| Excerpt | Relevance | Reference |
|---|---|---|
| "In a pilot study with 14 HSAN1 patients, L-serine supplementation similarly reduced dSL levels." | 2.76 | Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. ( Brown, RH; Eichler, FS; Frosch, MP; Garofalo, K; Hornemann, T; Lee, HJ; Penno, A; Schmidt, BP; von Eckardstein, A, 2011) |
| "Those patients diagnosed with both HSAN1 and MacTel showed the most significant decrease in circulating sphingomyelins." | 1.91 | Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease. ( Ansell, BRE; Bahlo, M; Bernstein, PS; Bonelli, R; Egan, C; Friedlander, M; Fruttiger, M; Gantner, ML; Green, CR; Handzlik, MK; Hart, B; McGregor, GH; Metallo, CM; Reilly, MM; Trombley, J; Tzaridis, S; Wallace, M, 2023) |
| "Consistently, HSN2 mutants reported in HSANII patients suppressed SPAK and OSR1 activation and LHX8 induction." | 1.72 | WNK1/HSN2 mediates neurite outgrowth and differentiation via a OSR1/GSK3β-LHX8 pathway. ( Shibuya, H; Shimizu, M, 2022) |
| "HSAN1 is associated with several mutations in serine-palmitoyltransferase (SPT), the first enzyme in the de novo sphingolipid biosynthetic pathway." | 1.51 | A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C. ( Biskup, S; Dräger, B; Hornemann, T; Hörtnagel, K; Lone, MA; Mulahasanovic, L; Othman, A; Schirmacher, A; Suriyanarayanan, S; von Eckardstein, A; Young, P, 2019) |
| "In conclusion, we showed that HSAN1 mutations in SPT have distinct biochemical properties, which allowed for the prediction of the clinical symptoms on the basis of the plasma sphingoid base profile." | 1.43 | HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. ( Alecu, I; Bode, H; Bourquin, F; Hornemann, T; Othman, A; Suriyanarayanan, S; Von Eckardstein, A; Wei, Y, 2016) |
| "The most common cause of HSAN1 is due to dominant mutations in serine palmitoyl-transferase subunit 1 (SPT1)." | 1.42 | Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1. ( Lloyd-Evans, E; Oswald, MC; Sweeney, ST; West, RJ, 2015) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (12.50) | 29.6817 |
| 2010's | 5 (62.50) | 24.3611 |
| 2020's | 2 (25.00) | 2.80 |
| Authors | Studies |
|---|---|
| Shimizu, M | 1 |
| Shibuya, H | 1 |
| Green, CR | 1 |
| Bonelli, R | 1 |
| Ansell, BRE | 1 |
| Tzaridis, S | 1 |
| Handzlik, MK | 1 |
| McGregor, GH | 1 |
| Hart, B | 1 |
| Trombley, J | 1 |
| Reilly, MM | 1 |
| Bernstein, PS | 1 |
| Egan, C | 1 |
| Fruttiger, M | 1 |
| Wallace, M | 1 |
| Bahlo, M | 1 |
| Friedlander, M | 1 |
| Metallo, CM | 1 |
| Gantner, ML | 1 |
| Suriyanarayanan, S | 2 |
| Othman, A | 2 |
| Dräger, B | 1 |
| Schirmacher, A | 1 |
| Young, P | 1 |
| Mulahasanovic, L | 1 |
| Hörtnagel, K | 1 |
| Biskup, S | 1 |
| von Eckardstein, A | 3 |
| Hornemann, T | 3 |
| Lone, MA | 1 |
| Oswald, MC | 1 |
| West, RJ | 1 |
| Lloyd-Evans, E | 1 |
| Sweeney, ST | 1 |
| Bode, H | 1 |
| Bourquin, F | 1 |
| Wei, Y | 1 |
| Alecu, I | 1 |
| Gable, K | 1 |
| Gupta, SD | 1 |
| Han, G | 1 |
| Niranjanakumari, S | 1 |
| Harmon, JM | 1 |
| Dunn, TM | 1 |
| Garofalo, K | 1 |
| Penno, A | 1 |
| Schmidt, BP | 1 |
| Lee, HJ | 1 |
| Frosch, MP | 1 |
| Brown, RH | 1 |
| Eichler, FS | 1 |
| Guo, YC | 1 |
| Liao, KK | 1 |
| Soong, BW | 1 |
| Tsai, CP | 1 |
| Niu, DM | 1 |
| Lee, HY | 1 |
| Lin, KP | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy of L-Serine in Subjects With Hereditary Sensory Neuropathy Type 1[NCT01733407] | Phase 1/Phase 2 | 18 participants (Actual) | Interventional | 2013-09-30 | Completed | ||
| Tolerability and Efficacy of L-Serine in Patients With Amyotrophic Lateral Sclerosis: A Phase IIa Study[NCT03580616] | Phase 2 | 43 participants (Actual) | Interventional | 2018-10-24 | Terminated (stopped due to Study was terminated by the IRB due to continued noncompliance.) | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
Plasma levels of the deoxysphingoid lipid 1-deoxy-sphinganine measured by liquid chromatography/mass spectrometry after hydrolyzing the N-acyl and O-linked headgroups (NCT01733407)
Timeframe: 48 Weeks
| Intervention | micromole per liter (Mean) |
|---|---|
| Sugar Pill | 0.338 |
| L-serine | 0.112 |
Plasma levels of the deoxysphingoid lipid 1-deoxy-sphingosine measured by liquid chromatography/mass spectrometry after hydrolyzing the N-acyl and O-linked headgroups (NCT01733407)
Timeframe: 48 weeks
| Intervention | micromole per liter (Mean) |
|---|---|
| Sugar Pill | 0.698 |
| L-serine | 0.337 |
Autonomic Function Testing (AFT) tests the effectiveness of your autonomic nervous system which regulates important functions such as blood pressure, heart rate, and respiration. AFT results are quantified using the composite autonomic severity score scale (CASS) which is a scale from 0 to 10 that is the sum of three sub scores (cardiovagal, adrenergic, and sudomotor). Cardiovagal is scored from 0 to 3, sudomotor is scored from 0 to 3, and adrenergic is scored from 0 to 4. The tests include deep breathing, Valsalva maneuver, head-up tilt, and a sweat test. The three subscores are then summed. This total represents the CASS which classifies autonomic function as normal functioning (total score 0), mild (total score 1-3), moderate (total score 4-6), or severe (total score 7-10). (NCT01733407)
Timeframe: 48 Weeks
| Intervention | scores on a scale (Mean) |
|---|---|
| Sugar Pill | 3.56 |
| L-serine | 2.22 |
The Charcot Marie Tooth Neuropathy Score (CMTNS) is a 0 to 36 point composite scoring assessment that is used to measure disease severity in Charcot Marie Tooth Neuropathy and other sensory and motor neuropathies. The CMTNS is composed of 9 items that evaluate functions related to disease progression. These 9 parameters include reviewing sensory symptoms, motor symptoms (arms and legs), pinprick sensibility, vibration, leg strength, arm strength, and nerve conduction tests. Each item is scored from 0 to 4, with the lower scores representing less severe symptoms and higher scores representing more severe symptoms.The 9 individual item scores are then totaled to provide a global measure of disease severity. For example the lowest possible total score is 0 which represents an asymptomatic individual and the highest score possible is a 36 which represents an individual with severe disease progression. There are sub scores that can be assessed but sub scores were not utilized in this study (NCT01733407)
Timeframe: 48 Weeks
| Intervention | scores on a scale (Mean) |
|---|---|
| Sugar Pill | 25.67 |
| L-serine | 20.22 |
Counts of nerve fibers per unit area in skin biopsies (NCT01733407)
Timeframe: 48 Weeks
| Intervention | nerve fibers per micrometer^2 (Mean) | |
|---|---|---|
| Upper Thigh | Lower Calf | |
| L-serine | 49.56 | 13.89 |
| Sugar Pill | 34.67 | 0.89 |
Evaluates the functioning of electrical conduction of the motor and sensory nerves of the human body. (NCT01733407)
Timeframe: 48 Weeks
| Intervention | microvolts (Mean) | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Sensrory Right Median Amplitude | Sensory Right Antebrach Amplitude | Sensory Right Superficial Radial Amplitude | Sensory Right Sural Amplitude | Sensory Right Superficial Peroneal Amplitude | Motor Right Median (Wrist) Amplitude | Motor Right Ulnar (Wrist) Amplitude | Motor Right Peroneal EDB (Ankle) Amplitude | Motor Right Peroneal Tib (Below) Amplitude | |
| L-serine | 5.51 | 5.89 | 10.84 | 1.07 | 0.00 | 4.21 | 4.37 | 0.24 | 1.39 |
| Sugar Pill | 1.34 | 2.31 | 4.56 | 0.52 | 0.00 | 3.34 | 2.49 | 0.54 | 0.29 |
1 trial available for alanine and Acroosteolysis, Giaccai Type
| Article | Year |
|---|---|
Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.
Topics: Administration, Oral; Adult; Aged; Alanine; Animals; Depression, Chemical; Dose-Response Relationshi | 2011 |
Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.
Topics: Administration, Oral; Adult; Aged; Alanine; Animals; Depression, Chemical; Dose-Response Relationshi | 2011 |
Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.
Topics: Administration, Oral; Adult; Aged; Alanine; Animals; Depression, Chemical; Dose-Response Relationshi | 2011 |
Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.
Topics: Administration, Oral; Adult; Aged; Alanine; Animals; Depression, Chemical; Dose-Response Relationshi | 2011 |
7 other studies available for alanine and Acroosteolysis, Giaccai Type
| Article | Year |
|---|---|
WNK1/HSN2 mediates neurite outgrowth and differentiation via a OSR1/GSK3β-LHX8 pathway.
Topics: Alanine; Cholinergic Agents; Glycogen Synthase Kinase 3 beta; Hereditary Sensory and Autonomic Neuro | 2022 |
Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease.
Topics: Alanine; Amino Acids; Animals; Glycine; Hereditary Sensory and Autonomic Neuropathies; Mice; Retinal | 2023 |
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
Topics: Alanine; Amino Acid Sequence; Consensus Sequence; Female; HEK293 Cells; Hereditary Sensory and Auton | 2019 |
Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1.
Topics: Alanine; Animals; Animals, Genetically Modified; Diet; Disease Models, Animal; Drosophila; Endoplasm | 2015 |
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
Topics: Adult; Aged; Alanine; Catalytic Domain; Child; Gas Chromatography-Mass Spectrometry; Gene Expression | 2016 |
A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.
Topics: Alanine; Animals; Biocatalysis; Catalytic Domain; CHO Cells; Cricetinae; Cricetulus; Extracellular S | 2010 |
Congenital insensitivity to pain with anhidrosis in Taiwan: a morphometric and genetic study.
Topics: Adolescent; Adult; Alanine; Axons; DNA Mutational Analysis; Electrophysiology; Hereditary Sensory an | 2004 |